Varaico: Literature-Extracted Genetic Variants

Gene:SNAPC1
Variant:p.E57V

SNAPC1

27 papers

Pfam Domains

SNAPC1aa 7–191UCSCSmall nuclear RNA activating complex (SNAPc), subunit 1

Gene Aliases

HGNC Name

small nuclear RNA activating complex polypeptide 1

HGNC Alias Symbols

SNAP43; PTFgamma

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003082.4
p.E57V
c.170A>T
Surrounding Variants
1 paper
NM_003082.4
p.K51R
c.152A>G
1 paper
NM_003082.4
p.L67fs
c.199_200fs
1 paper
NM_003082.4
p.I97fs
c.289_290fs
1 paper
NM_003082.4
p.Q112R
c.335A>G
1 paper
NM_003082.4
p.D121D
c.363T>C
1 paper
NM_003082.4
p.E160Q
c.478G>C
2 papers
NM_003082.4
p.M36R
c.107T>G
1 paper
NM_003082.4
p.T9S
c.26C>G
1 paper
NM_003082.4
p.T9S
c.25A>T
1 paper
NM_003082.4
p.Q8H
c.24G>C
1 paper
NM_003082.4
p.Q8H
c.24G>T
1 paper
NM_003082.4
p.E178_E179Splc
c.535-44C>T
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