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.S519N

c.1556G>A

Surrounding Variants

13 papers

NM_015278.5

p.Q518P

c.1553A>C

2 papers

NM_015278.5

p.S516R

c.1548T>A

2 papers

NM_015278.5

p.S516R

c.1548T>G

6 papers

NM_015278.5

p.S516N

c.1547G>A

8 papers

NM_015278.5

p.S516I

c.1547G>T

2 papers

NM_015278.5

p.S516R

c.1546A>C

19 papers

NM_015278.5

p.L515P

c.1544T>C

12 papers

NM_015278.5

p.S513R

c.1539T>A

12 papers

NM_015278.5

p.S513R

c.1539T>G

13 papers

NM_015278.5

p.S513R

c.1537A>C

12 papers

NM_015278.5

p.L511fs

c.1531_1532fs

9 papers

NM_015278.5

p.S510N

c.1529G>A