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.K185E

c.553A>G

Surrounding Variants

1 paper

NM_003086.4

p.D199N

c.595G>A

4 papers

NM_003086.4

p.V181delFs

c.542delA

1 paper

NM_003086.4

p.E178delFs

c.534delC

1 paper

NM_003086.4

p.R166*

c.496C>T

1 paper

NM_003086.4

p.G158fs

c.472_473fs

1 paper

NM_003086.4

p.K153R

c.458A>G

1 paper

NM_003086.4

p.A123T

c.367G>A

1 paper

NM_003086.4

p.R120M

c.359G>T

1 paper

NM_003086.4

p.Y93_L108delFs

c.278_324del47

1 paper

NM_003086.4

p.Y93fs

c.277_278fs

1 paper

NM_003086.4

p.E227V

c.680A>T

1 paper

NM_003086.4

p.N246Splc

c.737+5G>T