Varaico: Literature-Extracted Genetic Variants

Gene:SEC14L2
Variant:p.I152L

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.I152L
c.454A>C
Surrounding Variants
1 paper
NM_012429.5
p.I151R
c.452T>G
1 paper
NM_012429.5
p.T150fs
c.448_449fs
1 paper
NM_012429.5
p.D154A
c.461A>C
1 paper
NM_012429.5
p.I149N
c.446T>A
1 paper
NM_012429.5
p.T148fs
c.442_443fs
1 paper
NM_012429.5
p.G157W
c.469G>T
1 paper
NM_012429.5
p.H162delFs
c.486delT
2 papers
NM_012429.5
p.A170V
c.509C>T
1 paper
NM_012429.5
p.Y171_G172insFs
c.513_514insTT
1 paper
NM_012429.5
p.Y171F
c.512A>T
1 paper
NM_012429.5
p.G172A
c.515G>C
1 paper
NM_012429.5
p.E173Q
c.517G>C
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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."