Varaico: Literature-Extracted Genetic Variants

SH3BP2

139 papers

RefSeq Summary

The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several pro...

Pfam Domains

PHaa 27–130UCSCPH domain

SH2aa 458–538UCSCSH2 domain

Gene Aliases

HGNC Name

SH3 domain binding protein 2

HGNC Alias Symbols

RES4-23; CRBM

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

17 papers

NM_001122681.2

p.R415Q

c.1244G>A

Surrounding Variants

5 papers

NM_001122681.2

p.R415P

c.1244G>C

2 papers

NM_001145856.2

p.R472*

c.1414C>T

NM_001122681.2

p.R415*

c.1243C>T

5 papers

NM_001122681.2

p.P418T

c.1252C>A

1 paper

NM_001122681.2

p.P418A

c.1252C>G

8 papers

NM_001122681.2

p.P418H

c.1253C>A

24 papers

NM_001122681.2

p.P418R

c.1253C>G

9 papers

NM_001122681.2

p.P418L

c.1253C>T

1 paper

NM_001122681.2

p.P418delins

c.1253_1254delinsAT

7 papers

NM_001122681.2

p.D419N

c.1255G>A

6 papers

NM_001122681.2

p.D419Y

c.1255G>T

6 papers

NM_001122681.2

p.D419G

c.1256A>G

9 papers

NM_001122681.2

p.G420R

c.1258G>A