Varaico: Literature-Extracted Genetic Variants

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

1–12 of 135 variants

8 papers

NM_003086.4

p.S542del1

c.1624_1626delGCT

5 papers

NM_003086.4

p.H799Q

c.2397C>G

5 papers

NM_003086.4

p.H799Q

c.2397C>A

4 papers

NM_003086.4

p.V181delFs

c.542delA

3 papers

NM_003086.4

p.K900E

c.2698A>G

3 papers

NM_003086.4

p.P1448S

c.4342C>T

2 papers

NM_003086.4

p.D40G

c.119A>G

2 papers

NM_003086.4

p.A309V

c.926C>T

2 papers

NM_003086.4

p.R355H

c.1064G>A

2 papers

NM_003086.4

p.G610S

c.1828G>A

2 papers

NM_003086.4

p.A619T

c.1855G>A

2 papers

NM_003086.4

p.R729Q

c.2186G>A