Varaico: Literature-Extracted Genetic Variants

Gene:SIRPB1
Variant:p.D130delFs

SIRPB1

62 papers

RefSeq Summary

The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane gly...

Pfam Domains

V-setaa 37–144UCSCImmunoglobulin V-set domain
V-setaa 37–144UCSCImmunoglobulin V-set domain
C1-setaa 151–234UCSCImmunoglobulin C1-set domain
C1-setaa 151–234UCSCImmunoglobulin C1-set domain
C1-setaa 254–337UCSCImmunoglobulin C1-set domain
C1-setaa 255–337UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

signal regulatory protein beta 1

HGNC Alias Symbols

SIRP-BETA-1; CD172b; SIRB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_006065.5
p.D130delFs
c.388delC
Surrounding Variants
1 paper
NM_006065.5
p.D130N
c.388G>A
2 papers
NM_006065.5
p.D130fs
c.388_389fs
2 papers
NM_006065.5
p.D130fs
c.388_389fs
3 papers
NM_006065.5
p.V131fs
c.391_392fs
1 paper
NM_006065.5
p.D129_D130del1
c.387_389delTCG
1 paper
NM_006065.5
p.D129_D130del2
c.385_389del6
3 papers
NM_006065.5
p.V131fs
c.391_392fs
7 papers
NM_006065.5
p.V131delFs
c.392_393delCA
1 paper
NM_006065.5
p.V131del1
c.391_392delCAC
2 papers
NM_006065.5
p.R144R
c.432C>T
1 paper
NM_006065.5
p.A145T
c.433G>A
1 paper
NM_006065.5
p.D114D
c.342C>T
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