Varaico: Literature-Extracted Genetic Variants

Gene:SEC31B
Variant:p.M552I

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.M552I
c.1656G>A
Surrounding Variants
1 paper
NM_015490.4
p.M552I
c.1656G>T
1 paper
NM_015490.4
p.M552I
c.1656G>C
1 paper
NM_015490.4
p.D545E
c.1635T>G
1 paper
NM_015490.4
p.D545E
c.1635T>A
1 paper
NM_015490.4
p.S527R
c.1581C>G
1 paper
NM_015490.4
p.S527R
c.1581C>A
1 paper
NM_015490.4
p.S527R
c.1579A>C
1 paper
NM_015490.4
p.L506P
c.1517T>C
1 paper
NM_015490.4
p.D503E
c.1509C>G
1 paper
NM_015490.4
p.D503E
c.1509C>A
1 paper
NM_015490.4
p.R588H
c.1763G>A
1 paper
NM_015490.4
p.Q597*
c.1789C>T
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