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

43 papers

NM_015474.4

p.R164*

c.490C>T

Surrounding Variants

3 papers

NM_015474.4

p.R164Q

c.491G>A

1 paper

NM_015474.4

p.F165C

c.494T>G

3 papers

NM_015474.4

p.F165S

c.494T>C

1 paper

NM_015474.4

p.H162Q

c.486C>G

1 paper

NM_015474.4

p.H162Q

c.486C>A

1 paper

NM_015474.4

p.H162P

c.485A>C

1 paper

NM_015474.4

p.E166D

c.498G>T

9 papers

NM_015474.4

p.H167Y

c.499C>T

1 paper

NM_015474.4

p.H167delFs

c.500delT

1 paper

NM_015474.4

p.A160T

c.478G>A

2 papers

NM_015474.4

p.S168N

c.503G>A

1 paper

NM_015474.4

p.G159G

c.477A>G