Varaico: Literature-Extracted Genetic Variants

SASH3

43 papers

RefSeq Summary

The protein encoded by this gene contains a Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling. This protein may function as a ...

Pfam Domains

SPIDERaa 21–174UCSCSLy Proteins Associated Disordered Region

SH3_2aa 177–232UCSCVariant SH3 domain

SAM_1aa 251–314UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

SAM and SH3 domain containing 3

HGNC Previous Symbol

CXorf9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018990.4

p.G58A

c.173G>C

Surrounding Variants

1 paper

NM_018990.4

p.L72P

c.215T>C

1 paper

NM_018990.4

p.G89D

c.266G>A

1 paper

NM_018990.4

p.E45*

c.133G>T

1 paper

NM_018990.4

p.V40M

c.118G>A

1 paper

NM_018990.4

p.K29*

c.85A>T

1 paper

NM_018990.4

p.S27C

c.79A>T

1 paper

NM_018990.4

p.R24S

c.70C>A

1 paper

NM_018990.4

p.A127V

c.380C>T

1 paper

NM_018990.4

p.S142N

c.425G>A

4 papers

NM_018990.4

p.Q169*

c.505C>T

1 paper

NM_018990.4

p.T212T

c.636G>A

1 paper

NM_018990.4

p.N218S

c.653A>G