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.N99D

c.295A>G

Surrounding Variants

1 paper

NM_006065.5

p.N99K

c.297C>G

2 papers

NM_006065.5

p.N99K

c.297C>A

1 paper

NM_006065.5

p.L95delFs

c.284_285delGA

1 paper

NM_006065.5

p.L95fs

c.283_284fs

2 papers

NM_006065.5

p.L95P

c.284T>C

2 papers

NM_006065.5

p.L95F

c.283C>T

1 paper

NM_006065.5

p.E94insFs

c.281_282insGT

2 papers

NM_006065.5

p.S106R

c.316A>C

2 papers

NM_006065.5

p.S106R

c.318C>G

2 papers

NM_006065.5

p.S106R

c.318C>A

1 paper

NM_006065.5

p.P87P

c.261A>C

1 paper

NM_006065.5

p.D114D

c.342C>T