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

17 papers

NM_015278.5

p.E617K

c.1849G>A

Surrounding Variants

1 paper

NM_015278.5

p.R622C

c.1864C>T

1 paper

NM_015278.5

p.D611Y

c.1831G>T

1 paper

NM_015278.5

p.Y609Y

c.1827C>T

2 papers

NM_015278.5

p.R627H

c.1880G>A

4 papers

NM_015278.5

p.T604K

c.1811C>A

1 paper

NM_015278.5

p.P633L

c.1898C>T

12 papers

NM_015278.5

p.M595T

c.1784T>C

10 papers

NM_015278.5

p.R644W

c.1930C>T

1 paper

NM_015278.5

p.R644Q

c.1931G>A

13 papers

NM_015278.5

p.S587R

c.1761C>A

14 papers

NM_015278.5

p.S587R

c.1761C>G

1 paper

NM_015278.5

p.S587N

c.1760G>A