Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEC14L4

SEC14L4

33 papers

RefSeq Summary

The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for ...

Pfam Domains

CRAL_TRIO_Naa 15–58UCSCCRAL/TRIO, N-terminal domain

CRAL_TRIOaa 83–243UCSCCRAL/TRIO domain

Gene Aliases

HGNC Name

SEC14 like lipid binding 4

HGNC Alias Symbols

TAP3; dJ130H16.5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 30 variants

4 papers

chr22:30495307 G>C

NM_174977.4

p.R124G

c.370C>G

CRAL_TRIO

Exome: 21.6% (AC=316216, hom=36220)Genome: 19.0% (AC=28914, hom=3018)7 overlapping SVs

4 papers

chr22:30492507 C>T

NM_174977.4

p.E211K

c.631G>A

CRAL_TRIO

Exome: 21.5% (AC=314008, hom=36091)Genome: 18.6% (AC=28296, hom=2944)7 overlapping SVs

3 papers

chr22:30495313 G>A

NM_174977.4

p.R122W

c.364C>T

CRAL_TRIO

Exome: 1.1% (AC=15542, hom=115)Genome: 0.8% (AC=1242, hom=11)7 overlapping SVs

3 papers

chr22:30495277 C>A

NM_174977.4

p.E134*

c.400G>T

CRAL_TRIO

Exome: 0.3% (AC=3859, hom=163)Genome: 2.7% (AC=4164, hom=202)7 overlapping SVs

2 papers

chr22:30495307 G>A

NM_174977.4

p.R124C

c.370C>T

CRAL_TRIO

Exome: 0.0% (AC=467, hom=1)Genome: 0.0% (AC=29, hom=0)7 overlapping SVs

1 paper

chr22:30505562 G>A

NM_174977.4

p.A17V

c.50C>T

CRAL_TRIO_N

Exome: 0.0% (AC=0, hom=0)Genome: n/a4 overlapping SVs

1 paper

chr22:30503748 C>T

NM_174977.4

p.R20Q

c.59G>A

CRAL_TRIO_N

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=7, hom=0)5 overlapping SVs

1 paper

chr22:30503679 C>T

NM_174977.4

p.R43Q

c.128G>A

CRAL_TRIO_N

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=2, hom=0)5 overlapping SVs

1 paper

chr22:30495968 C>G

NM_174977.4

p.R45P

c.134G>C

CRAL_TRIO_N

exact variant not in gnomAD7 overlapping SVs

1 paper

chr22:30495591 G>A

NM_174977.4

p.P76S

c.226C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr22:30495373 T>C

NM_174977.4

p.I102V

c.304A>G

CRAL_TRIO

Exome: 0.0% (AC=1, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr22:30495322 C>T

NM_174977.4

p.D119N

c.355G>A

CRAL_TRIO

exact variant not in gnomAD7 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."