Varaico: Literature-Extracted Genetic Variants

Gene:SEC31B
Variant:p.H1130Q

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
1 paper
NM_015490.4
p.H1130Q
c.3390T>G
Surrounding Variants
1 paper
NM_015490.4
p.H1130Q
c.3390T>A
1 paper
NM_015490.4
p.C1154F
c.3461G>T
1 paper
NM_015490.4
p.E1159K
c.3475G>A
1 paper
NM_015490.4
p.A1169fs
c.3505_3506fs
3 papers
NM_015490.4
p.A1169S
c.3505G>T
1 paper
NM_015490.4
p.L1096F
c.3288A>T
1 paper
NM_015490.4
p.L1096F
c.3288A>C
2 papers
NM_015490.4
p.A1093E
c.3278C>A
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
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