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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEC14L4

Variant:p.A17V

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

Selected Variant

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

Surrounding Variants

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

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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."