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.K294*

c.880A>T

Surrounding Variants

1 paper

NM_015474.4

p.E292D

c.876A>T

1 paper

NM_015474.4

p.E292D

c.876A>C

1 paper

NM_015474.4

p.R290_S295del0

c.868_885del18

1 paper

NM_015474.4

p.R290fs

c.868_869fs

14 papers

NM_015474.4

p.R290H

c.869G>A

4 papers

NM_015474.4

p.R290C

c.868C>T

1 paper

NM_015474.4

p.R290S

c.868C>A

1 paper

NM_015474.4

p.G289A

c.866G>C

1 paper

NM_015474.4

p.E299*

c.895G>T

1 paper

NM_015474.4

p.G289W

c.865G>T

3 papers

NM_015474.4

p.K288T

c.863A>C

2 papers

NM_015474.4

p.I300L

c.898A>T