Varaico: Literature-Extracted Genetic Variants

SASH1

137 papers

RefSeq Summary

This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein...

Pfam Domains

SASH1_Homeodomainaa 52–98UCSCSASH1 homeodomain-like domain

SPIDERaa 401–555UCSCSLy Proteins Associated Disordered Region

SH3_2aa 558–613UCSCVariant SH3 domain

SAM_1aa 633–695UCSCSAM domain (Sterile alpha motif)

SASH1_Homeodomainaa 1093–1162UCSCSASH1 homeodomain-like domain

SAM_2aa 1174–1239UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

SAM and SH3 domain containing 1

HGNC Alias Symbols

KIAA0790; dJ323M4.1; SH3D6A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

18 papers

NM_015278.5

p.Y551D

c.1651T>G

Surrounding Variants

9 papers

NM_015278.5

p.Y551H

c.1651T>C

1 paper

NM_015278.5

p.E547K

c.1639G>A

1 paper

NM_015278.5

p.G557R

c.1669G>A

1 paper

NM_015278.5

p.G557R

c.1669G>C

1 paper

NM_015278.5

p.E542K

c.1624G>A

1 paper

NM_015278.5

p.V539I

c.1615G>A

1 paper

NM_015278.5

p.T566T

c.1698C>T

9 papers

NM_015278.5

p.S531Y

c.1592C>A

1 paper

NM_015278.5

p.S531C

c.1592C>G

13 papers

NM_015278.5

p.T525R

c.1574C>G

2 papers

NM_015278.5

p.T525I

c.1574C>T

3 papers

NM_015278.5

p.K578Q

c.1732A>C