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.Q539H

c.1617A>T

Surrounding Variants

1 paper

NM_015474.4

p.Q539H

c.1617A>C

1 paper

NM_015474.4

p.Q539insFs

c.1617dupA

1 paper

NM_015474.4

p.L540P

c.1619T>C

1 paper

NM_015474.4

p.S538fs

c.1612_1613fs

1 paper

NM_015474.4

p.V537A

c.1610T>C

2 papers

NM_015474.4

p.V537D

c.1610T>A

1 paper

NM_015474.4

p.P542Q

c.1625C>A

6 papers

NM_015474.4

p.Q536_V537Splc

c.1609-1G>C

1 paper

NM_015474.4

p.Q536_V537Splc

c.1609-2A>G

1 paper

NM_015474.4

p.E543D

c.1629G>T

1 paper

NM_015474.4

p.E543D

c.1629G>C

4 papers

NM_015474.4

p.F545L

c.1633T>C