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.Q186E

c.556C>G

Surrounding Variants

2 papers

NM_015474.4

p.Q186*

c.556C>T

1 paper

NM_015474.4

p.P187Q

c.560C>A

1 paper

NM_015474.4

p.E184*

c.550G>T

1 paper

NM_015474.4

p.G183A

c.548G>C

1 paper

NM_015474.4

p.G183R

c.547G>C

1 paper

NM_015474.4

p.L182L

c.546G>A

1 paper

NM_015474.4

p.A181E

c.542C>A

1 paper

NM_015474.4

p.A181T

c.541G>A

2 papers

NM_015474.4

p.I191V

c.571A>G

1 paper

NM_015474.4

p.E193*

c.577G>T

1 paper

NM_015474.4

p.V179F

c.535G>T

1 paper

NM_015474.4

p.L178Q

c.533T>A