Varaico: Literature-Extracted Genetic Variants

Gene:SEC14L2
Variant:p.E78K

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.E78K
c.232G>A
Surrounding Variants
1 paper
NM_012429.5
p.E78Q
c.232G>C
1 paper
NM_012429.5
p.E78V
c.233A>T
1 paper
NM_012429.5
p.E78D
c.234G>C
1 paper
NM_012429.5
p.E78D
c.234G>T
1 paper
NM_012429.5
p.P77T
c.229C>A
1 paper
NM_012429.5
p.S73R
c.219C>A
1 paper
NM_012429.5
p.S73_W74insFs
c.219_220insAT
1 paper
NM_012429.5
p.I72I
c.216T>A
1 paper
NM_012429.5
p.I72I
c.216T>C
1 paper
NM_012429.5
p.I72N
c.215T>A
1 paper
NM_012429.5
p.I72V
c.214A>G
1 paper
NM_012429.5
p.N70delFs
c.208delA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."