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

1–12 of 678 variants

43 papers

NM_015474.4

p.R164*

c.490C>T

30 papers

NM_015474.4

p.C198S

c.592T>A

30 papers

NM_015474.4

p.T592A

c.1774A>G

23 papers

NM_015474.4

p.R143H

c.428G>A

22 papers

NM_015474.4

p.I201N

c.602T>A

20 papers

NM_015474.4

p.Q548*

c.1642C>T

18 papers

NM_015474.4

p.D207N

c.619G>A

18 papers

NM_015474.4

p.D311A

c.932A>C

16 papers

NM_015474.4

p.D137N

c.409G>A

16 papers

NM_015474.4

p.R145Q

c.434G>A

16 papers

NM_015474.4

p.R470_E471Splc

c.1411-2A>G

15 papers

NM_015474.4

p.R145*

c.433C>T