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.R1126_A1129insFs

c.3378_3385dup8

Surrounding Variants

1 paper

NM_003086.4

p.R1126S

c.3378G>T

1 paper

NM_003086.4

p.R1126S

c.3378G>C

1 paper

NM_003086.4

p.R1120W

c.3358C>T

1 paper

NM_003086.4

p.T1150R

c.3449C>G

1 paper

NM_003086.4

p.A1167V

c.3500C>T

1 paper

NM_003086.4

p.P1200L

c.3599C>T

1 paper

NM_003086.4

p.L1053Q

c.3158T>A

1 paper

NM_003086.4

p.V1212I

c.3634G>A

1 paper

NM_003086.4

p.P1222L

c.3665C>T

1 paper

NM_003086.4

p.K1034R

c.3101A>G

1 paper

NM_003086.4

p.A1031T

c.3091G>A

1 paper

NM_003086.4

p.Q1005Q

c.3015A>G