Varaico: Literature-Extracted Genetic Variants

Gene:SEC31B
Variant:p.A1093E

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
2 papers
NM_015490.4
p.A1093E
c.3278C>A
Surrounding Variants
1 paper
NM_015490.4
p.L1096F
c.3288A>T
1 paper
NM_015490.4
p.L1096F
c.3288A>C
1 paper
NM_015490.4
p.R1088H
c.3263G>A
1 paper
NM_015490.4
p.Q1087Q
c.3261A>G
1 paper
NM_015490.4
p.A1084E
c.3251C>A
1 paper
NM_015490.4
p.K1079R
c.3236A>G
1 paper
NM_015490.4
p.L1071V
c.3211C>G
1 paper
NM_015490.4
p.E1067Q
c.3199G>C
1 paper
NM_015490.4
p.P1039delFs
c.3116_3117delAG
1 paper
NM_015490.4
p.P1039fs
c.3115_3116fs
1 paper
NM_015490.4
p.P1015S
c.3043C>T
1 paper
NM_015490.4
p.L1004F
c.3010C>T
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."