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.S329S

c.987C>T

Surrounding Variants

2 papers

NM_003086.4

p.R355H

c.1064G>A

1 paper

NM_003086.4

p.G367A

c.1100G>C

1 paper

NM_003086.4

p.Q386R

c.1157A>G

1 paper

NM_003086.4

p.E421Q

c.1261G>C

1 paper

NM_003086.4

p.R434fs

c.1300_1301fs

1 paper

NM_003086.4

p.D441N

c.1321G>A

1 paper

NM_003086.4

p.R442Splc

c.1325+1G>T

1 paper

NM_003086.4

p.E323E

c.969G>A

1 paper

NM_003086.4

p.W317*

c.951G>A

1 paper

NM_003086.4

p.W317*

c.950G>A

1 paper

NM_003086.4

p.L315L

c.945G>A

2 papers

NM_003086.4

p.A309V

c.926C>T