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

6 papers

NM_018990.4

p.R288*

c.862C>T

Surrounding Variants

1 paper

NM_018990.4

p.R288Q

c.863G>A

1 paper

NM_018990.4

p.L281Q

c.842T>A

1 paper

NM_018990.4

p.G277S

c.829G>A

1 paper

NM_018990.4

p.I264V

c.790A>G

5 papers

NM_018990.4

p.R245*

c.733C>T

1 paper

NM_018990.4

p.R244C

c.730C>T

1 paper

NM_018990.4

p.R241C

c.721C>T

1 paper

NM_018990.4

p.E234K

c.700G>A

1 paper

NM_018990.4

p.V221fs

c.661_662fs

1 paper

NM_018990.4

p.N218S

c.653A>G

1 paper

NM_018990.4

p.T212T

c.636G>A

1 paper

NM_018990.4

p.S320C

c.958A>T