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.D624N

c.1870G>A

Surrounding Variants

4 papers

NM_015474.4

p.K622R

c.1865A>G

1 paper

NM_015474.4

p.*627G

c.1879T>G

1 paper

NM_015474.4

p.V618A

c.1853T>C

1 paper

NM_015474.4

p.K615R

c.1844A>G

1 paper

NM_015474.4

p.S614F

c.1841C>T

1 paper

NM_015474.4

p.R611L

c.1832G>T

3 papers

NM_015474.4

p.R611Q

c.1832G>A

1 paper

NM_015474.4

p.T608A

c.1822A>G

1 paper

NM_015474.4

p.S603del1

c.1807_1808delTGA

1 paper

NM_015474.4

p.S601C

c.1801A>T

1 paper

NM_015474.4

p.N599N

c.1797C>T

1 paper

NM_015474.4

p.E597Q

c.1789G>C