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.P158L

c.473C>T

Surrounding Variants

3 papers

NM_015474.4

p.P158S

c.472C>T

1 paper

NM_015474.4

p.P158T

c.472C>A

1 paper

NM_015474.4

p.F157delFs

c.470delA

1 paper

NM_015474.4

p.F157insFs

c.470_471insCC

1 paper

NM_015474.4

p.G159V

c.476G>T

1 paper

NM_015474.4

p.F157I

c.469T>A

1 paper

NM_015474.4

p.G159G

c.477A>G

1 paper

NM_015474.4

p.A160T

c.478G>A

6 papers

NM_015474.4

p.Y155C

c.464A>G

1 paper

NM_015474.4

p.Y155S

c.464A>C

1 paper

NM_015474.4

p.Y155N

c.463T>A

1 paper

NM_015474.4

p.Y154Y

c.462C>T