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

2 papers

NM_006065.5

p.A363P

c.1087G>C

Surrounding Variants

1 paper

NM_006065.5

p.L381_L382insFs

c.1143_1144insG

1 paper

NM_006065.5

p.L382fs

c.1144_1145fs

1 paper

NM_006065.5

p.V387_A389del3

c.1159_1166del9

4 papers

NM_006065.5

p.I392_C393del2

c.1174_1178del6

1 paper

NM_006065.5

p.A398V

c.1193C>T

1 paper

NM_006065.5

p.A339V

c.1016C>T

1 paper

NM_006065.5

p.G336E

c.1007G>A

1 paper

NM_006065.5

p.C330delFs

c.988delA

1 paper

NM_006065.5

p.C330fs

c.988_989fs

2 papers

NM_006065.5

p.D324G

c.971A>G

1 paper

NM_006065.5

p.M312I

c.936G>T

1 paper

NM_006065.5

p.M312I

c.936G>C