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

1–12 of 74 variants

7 papers

NM_006065.5

p.V131delFs

c.392_393delCA

5 papers

NM_006065.5

p.D130delFs

c.388delC

4 papers

NM_006065.5

p.R23G

c.67A>G

4 papers

NM_006065.5

p.I392_C393del2

c.1174_1178del6

3 papers

NM_006065.5

p.R53H

c.158G>A

3 papers

NM_006065.5

p.V131fs

c.391_392fs

3 papers

NM_006065.5

p.V131fs

c.391_392fs

2 papers

NM_006065.5

p.V62L

c.184G>T

2 papers

NM_006065.5

p.V62L

c.184G>C

2 papers

NM_006065.5

p.L95F

c.283C>T

2 papers

NM_006065.5

p.L95P

c.284T>C

2 papers

NM_006065.5

p.N99K

c.297C>A