Varaico: Literature-Extracted Genetic Variants

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

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

1 paper

NM_006065.5

p.M312I

c.936G>C

Surrounding Variants

1 paper

NM_006065.5

p.M312I

c.936G>T

1 paper

NM_006065.5

p.M312I

c.936G>A

2 papers

NM_006065.5

p.D324G

c.971A>G

1 paper

NM_006065.5

p.C330fs

c.988_989fs

1 paper

NM_006065.5

p.C330delFs

c.988delA

1 paper

NM_006065.5

p.G290E

c.869G>A

1 paper

NM_006065.5

p.G336E

c.1007G>A

1 paper

NM_006065.5

p.L284_T285del2

c.850_854del6

1 paper

NM_006065.5

p.A339V

c.1016C>T

1 paper

NM_006065.5

p.G281_L282insGT

c.841_845ins6

1 paper

NM_006065.5

p.R280Q

c.839G>A

1 paper

NM_006065.5

p.P252A

c.754C>G