Varaico: Literature-Extracted Genetic Variants

Gene:SEC14L2
Variant:p.E21A

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
2 papers
NM_012429.5
p.E21A
c.62A>C
Surrounding Variants
2 papers
NM_012429.5
p.N22S
c.65A>G
1 paper
NM_012429.5
p.R20Q
c.59G>A
3 papers
NM_012429.5
p.F19Y
c.56T>A
1 paper
NM_012429.5
p.P28Q
c.83C>A
1 paper
NM_012429.5
p.L30Q
c.89T>A
1 paper
NM_012429.5
p.P31P
c.93G>A
1 paper
NM_012429.5
p.R40fs
c.118_119fs
1 paper
NM_012429.5
p.R43Q
c.128G>A
1 paper
NM_012429.5
p.R43L
c.128G>T
1 paper
NM_012429.5
p.A44Splc
c.130+1G>A
1 paper
NM_012429.5
p.K18T
c.53A>C
1 paper
NM_012429.5
p.K18delFs
c.54delG
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