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.P697P

c.2091C>T

Surrounding Variants

1 paper

NM_003086.4

p.V711M

c.2131G>A

1 paper

NM_003086.4

p.R713Q

c.2138G>A

1 paper

NM_003086.4

p.R729W

c.2185C>T

2 papers

NM_003086.4

p.R729Q

c.2186G>A

1 paper

NM_003086.4

p.R730C

c.2188C>T

1 paper

NM_003086.4

p.R737Q

c.2210G>A

1 paper

NM_003086.4

p.W751S

c.2252G>C

1 paper

NM_003086.4

p.V752fs

c.2254_2255fs

1 paper

NM_003086.4

p.Q689_K690Splc

c.2067+1G>T

1 paper

NM_003086.4

p.R685P

c.2054G>C

1 paper

NM_003086.4

p.A773Splc

c.2317+1G>T

1 paper

NM_003086.4

p.A680T

c.2038G>A