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

1 paper

NM_015474.4

p.H206Y

c.616C>T

Surrounding Variants

13 papers

NM_015474.4

p.H206R

c.617A>G

3 papers

NM_015474.4

p.D207Y

c.619G>T

18 papers

NM_015474.4

p.D207N

c.619G>A

8 papers

NM_015474.4

p.D207A

c.620A>C

1 paper

NM_015474.4

p.G203E

c.608G>A

1 paper

NM_015474.4

p.G203R

c.607G>C

3 papers

NM_015474.4

p.G209S

c.625G>A

1 paper

NM_015474.4

p.G203R

c.607G>A

1 paper

NM_015474.4

p.G209Splc

c.625+1G>A

1 paper

NM_015474.4

p.A202V

c.605C>T

1 paper

NM_015474.4

p.A202T

c.604G>A

1 paper

NM_015474.4

p.I201I

c.603T>A