Varaico: Literature-Extracted Genetic Variants

Gene:SEC14L4
Variant:p.R124G

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
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_174977.4
p.R124G
c.370C>G
Surrounding Variants
2 papers
NM_174977.4
p.R124C
c.370C>T
3 papers
NM_174977.4
p.R122W
c.364C>T
1 paper
NM_174977.4
p.D119N
c.355G>A
3 papers
NM_174977.4
p.E134*
c.400G>T
1 paper
NM_174977.4
p.K141_L142Splc
c.423+10G>A
1 paper
NM_174977.4
p.I102V
c.304A>G
1 paper
NM_174977.4
p.P76S
c.226C>T
1 paper
NM_174977.4
p.L142R
c.425T>G
1 paper
NM_174977.4
p.V152L
c.454G>T
1 paper
NM_174977.4
p.V152L
c.454G>C
1 paper
NM_174977.4
p.E169D
c.507G>T
1 paper
NM_174977.4
p.Q173_F174Splc
c.519+1G>C
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