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.E227V

c.680A>T

Surrounding Variants

1 paper

NM_003086.4

p.N246Splc

c.737+5G>T

1 paper

NM_003086.4

p.E250*

c.748G>T

1 paper

NM_003086.4

p.N270_F271Splc

c.810+1G>C

1 paper

NM_003086.4

p.R281Q

c.842G>A

1 paper

NM_003086.4

p.W297G

c.889T>G

1 paper

NM_003086.4

p.R299W

c.895A>T

2 papers

NM_003086.4

p.A309V

c.926C>T

1 paper

NM_003086.4

p.L315L

c.945G>A

1 paper

NM_003086.4

p.W317*

c.950G>A

1 paper

NM_003086.4

p.W317*

c.951G>A

1 paper

NM_003086.4

p.E323E

c.969G>A

1 paper

NM_003086.4

p.D199N

c.595G>A