Varaico: Literature-Extracted Genetic Variants

Gene:SEC14L2
Variant:p.R122T

SEC14L2

432 papers

RefSeq Summary

This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein...

Pfam Domains

CRAL_TRIO_Naa 15–58UCSCCRAL/TRIO, N-terminal domain
CRAL_TRIOaa 81–243UCSCCRAL/TRIO domain

Gene Aliases

HGNC Name

SEC14 like lipid binding 2

HGNC Previous Symbol

C22orf6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012429.5
p.R122T
c.365G>C
Surrounding Variants
2 papers
NM_012429.5
p.R122K
c.365G>A
1 paper
NM_012429.5
p.K124E
c.370A>G
1 paper
NM_012429.5
p.D119N
c.355G>A
1 paper
NM_012429.5
p.Q118Q
c.354G>A
1 paper
NM_012429.5
p.K117E
c.349A>G
1 paper
NM_012429.5
p.C128*
c.384T>A
1 paper
NM_012429.5
p.S116A
c.346T>G
1 paper
NM_012429.5
p.E129G
c.386A>G
1 paper
NM_012429.5
p.A115G
c.344C>G
1 paper
NM_012429.5
p.S114L
c.341C>T
2 papers
NM_012429.5
p.F113L
c.339C>A
2 papers
NM_012429.5
p.F113L
c.339C>G
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