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.E39D

c.117A>T

Surrounding Variants

1 paper

NM_006065.5

p.E39D

c.117A>C

1 paper

NM_006065.5

p.S43_V44delFs

c.129_130delCT

1 paper

NM_006065.5

p.V44delFs

c.131delA

1 paper

NM_006065.5

p.D31E

c.93C>G

1 paper

NM_006065.5

p.D31E

c.93C>A

1 paper

NM_006065.5

p.G29G

c.87T>G

1 paper

NM_006065.5

p.T51I

c.152C>T

1 paper

NM_006065.5

p.G26V

c.77G>T

3 papers

NM_006065.5

p.R53H

c.158G>A

2 papers

NM_006065.5

p.V62L

c.184G>T

2 papers

NM_006065.5

p.V62L

c.184G>C

1 paper

NM_006065.5

p.R69T

c.206G>C