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.S561delFs

c.1681_1682delCT

Surrounding Variants

1 paper

NM_015474.4

p.K560R

c.1679A>G

1 paper

NM_015474.4

p.A564A

c.1692C>T

2 papers

NM_015474.4

p.A565T

c.1693G>A

1 paper

NM_015474.4

p.Q567K

c.1699C>A

1 paper

NM_015474.4

p.K556R

c.1667A>G

1 paper

NM_015474.4

p.Q567R

c.1700A>G

1 paper

NM_015474.4

p.K555R

c.1664A>G

1 paper

NM_015474.4

p.F569L

c.1705T>C

1 paper

NM_015474.4

p.F569L

c.1707T>G

1 paper

NM_015474.4

p.F569L

c.1707T>A

1 paper

NM_015474.4

p.V570F

c.1708G>T

1 paper

NM_015474.4

p.Y553D

c.1657T>G