Varaico: Literature-Extracted Genetic Variants

SAMHD1

428 papers

RefSeq Summary

This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha...

Pfam Domains

SAM_2aa 42–108UCSCSAM domain (Sterile alpha motif)

HDaa 164–274UCSCHD domain

Gene Aliases

HGNC Name

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

HGNC Alias Symbols

SBBI88; Mg11; HDDC1; MOP-5; AGS5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

22 papers

NM_015474.4

p.I201N

c.602T>A

Surrounding Variants

1 paper

NM_015474.4

p.I201I

c.603T>A

1 paper

NM_015474.4

p.Q200ins0

c.598_600dupCAG

1 paper

NM_015474.4

p.Q200H

c.600G>T

1 paper

NM_015474.4

p.Q200H

c.600G>C

1 paper

NM_015474.4

p.A202T

c.604G>A

1 paper

NM_015474.4

p.A202V

c.605C>T

1 paper

NM_015474.4

p.Q200R

c.599A>G

1 paper

NM_015474.4

p.G203R

c.607G>C

1 paper

NM_015474.4

p.G203R

c.607G>A

1 paper

NM_015474.4

p.G203E

c.608G>A

30 papers

NM_015474.4

p.C198S

c.592T>A

1 paper

NM_015474.4

p.L197V

c.589C>G