Varaico: Literature-Extracted Genetic Variants

Gene:MPIG6B
Variant:p.A52fs

MPIG6B

42 papers

RefSeq Summary

This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma m...

Pfam Domains

G6Baa 18–131UCSCG6b-B extracellular V-set Ig-like domain

Gene Aliases

HGNC Name

megakaryocyte and platelet inhibitory receptor G6b

HGNC Previous Symbol

C6orf25

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138272.3
p.A52fs
c.154_155fs
Surrounding Variants
1 paper
NM_138272.3
p.F50fs
c.148_149fs
7 papers
NM_138272.3
p.F50insFs
c.149dupT
1 paper
NM_138272.3
p.S49insFs
c.146_147insT
1 paper
NM_138272.3
p.A47G
c.140C>G
1 paper
NM_138272.3
p.A47_P62ins5
c.141_185dup45
2 papers
NM_138272.3
p.W44*
c.132G>A
2 papers
NM_138272.3
p.W44C
c.132G>C
2 papers
NM_138272.3
p.W44C
c.132G>T
2 papers
NM_138272.3
p.W44*
c.131G>A
1 paper
NM_138272.3
p.R43C
c.127C>T
1 paper
NM_138272.3
p.P62L
c.185C>T
1 paper
NM_138272.3
p.H40Y
c.118C>T
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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."