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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEC14L3

SEC14L3

39 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_TRIOaa 81–243UCSCCRAL/TRIO domain

Gene Aliases

HGNC Name

SEC14 like lipid binding 3

HGNC Previous Names

SEC14-like 3 (S. cerevisiae); SEC14-like lipid binding 3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 47 variants

4 papers

chr22:30464843 C>T

NM_174975.5

p.R214H

c.641G>A

CRAL_TRIO

Exome: 21.2% (AC=309767, hom=34045)Genome: 21.7% (AC=33020, hom=3696)5 overlapping SVs

4 papers

chr22:30461386 A>C

NM_174975.5

p.D335E

c.1005T>G

Exome: 63.5% (AC=927860, hom=299557)Genome: 70.5% (AC=107138, hom=38745)4 overlapping SVs

4 papers

chr22:30461386 A>T

NM_174975.5

p.D335E

c.1005T>A

Exome: 0.0% (AC=5, hom=0)Genome: n/a4 overlapping SVs

2 papers

chr22:30468663 C>T

NM_174975.5

p.G90S

c.268G>A

CRAL_TRIO

Exome: 0.0% (AC=7, hom=0)Genome: n/a4 overlapping SVs

2 papers

chr22:30468623 A>G

NM_174975.5

p.I103T

c.308T>C

CRAL_TRIO

Exome: 35.3% (AC=516208, hom=95186)Genome: 37.8% (AC=57292, hom=11195)4 overlapping SVs

2 papers

chr22:30464844 G>A

NM_174975.5

p.R214C

c.640C>T

CRAL_TRIO

Exome: 0.0% (AC=376, hom=3)Genome: 0.2% (AC=364, hom=4)5 overlapping SVs

2 papers

chr22:30461624 G>A

NM_174975.5

p.S281L

c.842C>T

Exome: 0.0% (AC=107, hom=0)Genome: 0.0% (AC=18, hom=0)4 overlapping SVs

2 papers

chr22:30460134 G>A

NM_174975.5

p.R364C

c.1090C>T

Exome: 4.2% (AC=61352, hom=1508)Genome: 3.8% (AC=5779, hom=165)4 overlapping SVs

1 paper

chr22:30471946 C>G

NM_174975.5

p.V5L

c.13G>C

exact variant not in gnomAD5 overlapping SVs

1 paper

chr22:30470578 C>T

NM_174975.5

p.R20Q

c.59G>A

Exome: 0.0% (AC=215, hom=1)Genome: 0.0% (AC=8, hom=0)4 overlapping SVs

1 paper

chr22:30470570 C>A

NM_174975.5

p.V23F

c.67G>T

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=2, hom=0)4 overlapping SVs

1 paper

chr22:30470564 C>T

NM_174975.5

p.D25N

c.73G>A

Exome: n/aGenome: 0.0% (AC=1, hom=0)4 overlapping SVs

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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."