Varaico: Literature-Extracted Genetic Variants

Gene:SNAPC4
Variant:p.R1339W

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.R1339W
c.4015C>T
Surrounding Variants
1 paper
NM_003086.4
p.V1332M
c.3994G>A
2 papers
NM_003086.4
p.A1346V
c.4037C>T
1 paper
NM_003086.4
p.R1312Q
c.3935G>A
1 paper
NM_003086.4
p.A1307P
c.3919G>C
1 paper
NM_003086.4
p.Q1384Q
c.4152A>G
1 paper
NM_003086.4
p.G1385S
c.4153G>A
1 paper
NM_003086.4
p.R1293C
c.3877C>T
1 paper
NM_003086.4
p.L1390F
c.4168C>T
1 paper
NM_003086.4
p.E1403E
c.4209A>G
1 paper
NM_003086.4
p.S1407S
c.4221T>C
2 papers
NM_003086.4
p.A1412S
c.4234G>T
1 paper
NM_003086.4
p.P1222L
c.3665C>T
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