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

2 papers

NM_015474.4

p.D311N

c.931G>A

Surrounding Variants

18 papers

NM_015474.4

p.D311A

c.932A>C

1 paper

NM_015474.4

p.D311E

c.933C>G

1 paper

NM_015474.4

p.D311E

c.933C>A

1 paper

NM_015474.4

p.K312I

c.935A>T

1 paper

NM_015474.4

p.K312T

c.935A>C

1 paper

NM_015474.4

p.D309N

c.925G>A

1 paper

NM_015474.4

p.D314Y

c.940G>T

1 paper

NM_015474.4

p.G307V

c.920G>T

1 paper

NM_015474.4

p.G307A

c.920G>C

1 paper

NM_015474.4

p.R305I

c.914G>T

1 paper

NM_015474.4

p.A317S

c.949G>T

1 paper

NM_015474.4

p.R318G

c.952A>G