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.G153V

c.458G>T

Surrounding Variants

1 paper

NM_015474.4

p.G153D

c.458G>A

1 paper

NM_015474.4

p.G153R

c.457G>C

1 paper

NM_015474.4

p.G153S

c.457G>A

1 paper

NM_015474.4

p.G152_G153del2

c.454_458del6

13 papers

NM_015474.4

p.Y154S

c.461A>C

1 paper

NM_015474.4

p.G152R

c.454G>C

1 paper

NM_015474.4

p.L150_G151del2

c.448_452del6

1 paper

NM_015474.4

p.Y154Y

c.462C>T

1 paper

NM_015474.4

p.Y155N

c.463T>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.L150Q

c.449T>A