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

1–12 of 32 variants

6 papers

NM_018990.4

p.R288*

c.862C>T

6 papers

NM_018990.4

p.R347C

c.1039C>T

5 papers

NM_018990.4

p.R245*

c.733C>T

4 papers

NM_018990.4

p.Q169*

c.505C>T

1 paper

NM_018990.4

p.R4C

c.10C>T

1 paper

NM_018990.4

p.K5T

c.14A>C

1 paper

NM_018990.4

p.K17K

c.51G>A

1 paper

NM_018990.4

p.R24S

c.70C>A

1 paper

NM_018990.4

p.S27C

c.79A>T

1 paper

NM_018990.4

p.K29*

c.85A>T

1 paper

NM_018990.4

p.V40M

c.118G>A

1 paper

NM_018990.4

p.E45*

c.133G>T