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.F141L

c.421T>C

Surrounding Variants

2 papers

NM_015474.4

p.Q142*

c.424C>T

1 paper

NM_015474.4

p.Q142E

c.424C>G

14 papers

NM_015474.4

p.R143C

c.427C>T

23 papers

NM_015474.4

p.R143H

c.428G>A

2 papers

NM_015474.4

p.D137G

c.410A>G

10 papers

NM_015474.4

p.D137A

c.410A>C

1 paper

NM_015474.4

p.L131_I136insFs

c.393_408dup16

1 paper

NM_015474.4

p.D137H

c.409G>C

16 papers

NM_015474.4

p.D137N

c.409G>A

15 papers

NM_015474.4

p.R145*

c.433C>T

1 paper

NM_015474.4

p.R145P

c.434G>C

16 papers

NM_015474.4

p.R145Q

c.434G>A