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

15 papers

NM_015474.4

p.R145*

c.433C>T

Surrounding Variants

1 paper

NM_015474.4

p.R145P

c.434G>C

16 papers

NM_015474.4

p.R145Q

c.434G>A

1 paper

NM_015474.4

p.Y146insFs

c.436_437insG

1 paper

NM_015474.4

p.Y146C

c.437A>G

13 papers

NM_015474.4

p.Y146S

c.437A>C

23 papers

NM_015474.4

p.R143H

c.428G>A

14 papers

NM_015474.4

p.R143C

c.427C>T

2 papers

NM_015474.4

p.I147V

c.439A>G

1 paper

NM_015474.4

p.I147insFs

c.439_440insA

1 paper

NM_015474.4

p.I147M

c.441C>G

2 papers

NM_015474.4

p.Q142*

c.424C>T

1 paper

NM_015474.4

p.Q142E

c.424C>G