Varaico: Literature-Extracted Genetic Variants

Gene:SNAPC4
Variant:p.D40G

SNAPC4

105 papers

RefSeq Summary

This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III ...

Pfam Domains

Myb_DNA-bind_6aa 297–357UCSCMyb-like DNA-binding domain
Myb_DNA-bind_6aa 349–410UCSCMyb-like DNA-binding domain
Myb_DNA-bind_6aa 404–464UCSCMyb-like DNA-binding domain
Myb_DNA-bind_6aa 456–512UCSCMyb-like DNA-binding domain

Gene Aliases

HGNC Name

small nuclear RNA activating complex polypeptide 4

HGNC Alias Symbols

SNAP190; PTFalpha; FLJ13451

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003086.4
p.D40G
c.119A>G
Surrounding Variants
1 paper
NM_003086.4
p.A43G
c.128C>G
1 paper
NM_003086.4
p.S28C
c.83C>G
1 paper
NM_003086.4
p.R19S
c.57G>T
1 paper
NM_003086.4
p.R19S
c.57G>C
1 paper
NM_003086.4
p.K15E
c.43A>G
1 paper
NM_003086.4
p.E13V
c.38A>T
1 paper
NM_003086.4
p.T11A
c.31A>G
1 paper
NM_003086.4
p.Y93fs
c.277_278fs
1 paper
NM_003086.4
p.Y93_L108delFs
c.278_324del47
1 paper
NM_003086.4
p.R120M
c.359G>T
1 paper
NM_003086.4
p.A123T
c.367G>A
1 paper
NM_003086.4
p.K153R
c.458A>G
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