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.K596M

c.1787A>T

Surrounding Variants

1 paper

NM_015474.4

p.K596R

c.1787A>G

1 paper

NM_015474.4

p.K596N

c.1788G>T

2 papers

NM_015474.4

p.K596fs

c.1786_1787fs

1 paper

NM_015474.4

p.K596N

c.1788G>C

1 paper

NM_015474.4

p.E597Q

c.1789G>C

1 paper

NM_015474.4

p.E597K

c.1789G>A

3 papers

NM_015474.4

p.K595R

c.1784A>G

1 paper

NM_015474.4

p.Q594L

c.1781A>T

1 paper

NM_015474.4

p.Q594R

c.1781A>G

1 paper

NM_015474.4

p.N599N

c.1797C>T

1 paper

NM_015474.4

p.P593A

c.1777C>G

30 papers

NM_015474.4

p.T592A

c.1774A>G