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.R551*

c.1651C>T

Surrounding Variants

1 paper

NM_015474.4

p.R551P

c.1652G>C

1 paper

NM_015474.4

p.Y553D

c.1657T>G

1 paper

NM_015474.4

p.Q548H

c.1644G>T

1 paper

NM_015474.4

p.Q548H

c.1644G>C

20 papers

NM_015474.4

p.Q548*

c.1642C>T

1 paper

NM_015474.4

p.K555R

c.1664A>G

1 paper

NM_015474.4

p.A546E

c.1637C>A

4 papers

NM_015474.4

p.F545L

c.1635T>G

4 papers

NM_015474.4

p.F545L

c.1635T>A

1 paper

NM_015474.4

p.K556R

c.1667A>G

4 papers

NM_015474.4

p.F545L

c.1633T>C

1 paper

NM_015474.4

p.E543D

c.1629G>T