Varaico: Literature-Extracted Genetic Variants

SAMSN1

31 papers

RefSeq Summary

SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Ma...

Pfam Domains

SPIDERaa 1–95UCSCSLy Proteins Associated Disordered Region

SPIDERaa 17–164UCSCSLy Proteins Associated Disordered Region

SH3_2aa 98–153UCSCVariant SH3 domain

SH3_2aa 167–222UCSCVariant SH3 domain

SAM_2aa 169–234UCSCSAM domain (Sterile alpha motif)

SAM_2aa 238–303UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

SAM domain, SH3 domain and nuclear localization signals 1

HGNC Alias Symbols

NASH1; SASH2; SH3D6B; HACS1; SLy2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022136.5

p.N148Y

c.442A>T

Surrounding Variants

1 paper

NM_022136.5

p.N148K

c.444C>G

1 paper

NM_022136.5

p.N148K

c.444C>A

2 papers

NM_022136.5

p.R153*

c.457C>T

1 paper

NM_022136.5

p.R153L

c.458G>T

1 paper

NM_022136.5

p.D157N

c.469G>A

1 paper

NM_022136.5

p.S137Splc

c.410-1G>A

1 paper

NM_022136.5

p.P159S

c.475C>T

1 paper

NM_022136.5

p.G166R

c.496G>C

1 paper

NM_022136.5

p.G166S

c.496G>A

1 paper

NM_022136.5

p.S137Splc

c.409+1G>C

1 paper

NM_022136.5

p.G132R

c.394G>C

1 paper

NM_022136.5

p.G132R

c.394G>A