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.H125insFs

c.375dupC

Surrounding Variants

1 paper

NM_015474.4

p.I126T

c.377T>C

1 paper

NM_015474.4

p.H125fs

c.373_374fs

1 paper

NM_015474.4

p.H125N

c.373C>A

1 paper

NM_015474.4

p.E127A

c.380A>C

2 papers

NM_015474.4

p.D120_G124del0

c.359_370del12

1 paper

NM_015474.4

p.L128F

c.382C>T

1 paper

NM_015474.4

p.L128I

c.382C>A

1 paper

NM_015474.4

p.I122_H123ins0

c.366_368dupCCA

1 paper

NM_015474.4

p.L128L

c.384C>T

8 papers

NM_015474.4

p.H123P

c.368A>C

2 papers

NM_015474.4

p.H123Y

c.367C>T

1 paper

NM_015474.4

p.H129L

c.386A>T