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

Selected Variant

1 paper

NM_003086.4

p.P574S

c.1720C>T

Surrounding Variants

1 paper

NM_003086.4

p.W583*

c.1748G>A

1 paper

NM_003086.4

p.W583*

c.1749G>A

1 paper

NM_003086.4

p.G593V

c.1778G>T

1 paper

NM_003086.4

p.G553R

c.1657G>C

1 paper

NM_003086.4

p.G553R

c.1657G>A

1 paper

NM_003086.4

p.E543Fs

c.1627delinsAGCFs

8 papers

NM_003086.4

p.S542del1

c.1624_1626delGCT

1 paper

NM_003086.4

p.A606G

c.1817C>G

2 papers

NM_003086.4

p.G610S

c.1828G>A

2 papers

NM_003086.4

p.A619T

c.1855G>A

1 paper

NM_003086.4

p.S626G

c.1876A>G

1 paper

NM_003086.4

p.P627S

c.1879C>T