Varaico: Literature-Extracted Genetic Variants

Gene:SEC14L2
Variant:p.K255E

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.K255E
c.763A>G
Surrounding Variants
1 paper
NM_012429.5
p.K253R
c.758A>G
1 paper
NM_012429.5
p.P252L
c.755C>T
1 paper
NM_012429.5
p.P248S
c.742C>T
1 paper
NM_012429.5
p.E240Q
c.718G>C
1 paper
NM_012429.5
p.V237M
c.709G>A
1 paper
NM_012429.5
p.Q236R
c.707A>G
1 paper
NM_012429.5
p.K225K
c.675G>A
1 paper
NM_012429.5
p.W224R
c.670T>A
1 paper
NM_012429.5
p.Y260*
c.780C>A
1 paper
NM_012429.5
p.Y260*
c.780C>G
1 paper
NM_012429.5
p.D263A
c.788A>C
1 paper
NM_012429.5
p.Y268H
c.802T>C
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