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.K494Q

c.1480A>C

Surrounding Variants

3 papers

NM_015474.4

p.K494R

c.1481A>G

3 papers

NM_015474.4

p.L493R

c.1478T>G

2 papers

NM_015474.4

p.A495T

c.1483G>A

1 paper

NM_015474.4

p.K492delFs

c.1476delT

1 paper

NM_015474.4

p.K492R

c.1475A>G

1 paper

NM_015474.4

p.E496*

c.1486G>T

1 paper

NM_015474.4

p.K492fs

c.1474_1475fs

1 paper

NM_015474.4

p.V491G

c.1472T>G

1 paper

NM_015474.4

p.E496D

c.1488A>T

1 paper

NM_015474.4

p.E496D

c.1488A>C

4 papers

NM_015474.4

p.D497Y

c.1489G>T

1 paper

NM_015474.4

p.V491M

c.1471G>A