Varaico: Literature-Extracted Genetic Variants

Gene:SEC31B
Variant:p.S332A

SEC31B

86 papers

RefSeq Summary

This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-depend...

Pfam Domains

WD40aa 113–150UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

SEC31 homolog B, COPII component

HGNC Previous Symbol

SEC31L2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_015490.4
p.S332A
c.994T>G
Surrounding Variants
1 paper
NM_015490.4
p.R314W
c.940C>T
1 paper
NM_015490.4
p.C306Y
c.917G>A
1 paper
NM_015490.4
p.S292G
c.874A>G
1 paper
NM_015490.4
p.G291delFs
c.873delC
1 paper
NM_015490.4
p.L275M
c.823C>A
1 paper
NM_015490.4
p.Q270H
c.810G>T
1 paper
NM_015490.4
p.Q270H
c.810G>C
1 paper
NM_015490.4
p.L359V
c.1075C>G
1 paper
NM_015490.4
p.P375S
c.1123C>T
1 paper
NM_015490.4
p.K379fs
c.1135_1136fs
1 paper
NM_015490.4
p.K379insFs
c.1137dupA
1 paper
NM_015490.4
p.P380T
c.1138C>A
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