Varaico: Literature-Extracted Genetic Variants

Gene:SNAPC1
Variant:p.R283H

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.R283H
c.848G>A
Surrounding Variants
1 paper
NM_003082.4
p.K286R
c.857A>G
1 paper
NM_003082.4
p.D288H
c.862G>C
1 paper
NM_003082.4
p.Q300H
c.900A>C
1 paper
NM_003082.4
p.Q300H
c.900A>T
1 paper
NM_003082.4
p.K302R
c.905A>G
1 paper
NM_003082.4
p.E254A
c.761A>C
1 paper
NM_003082.4
p.K245R
c.734A>G
1 paper
NM_003082.4
p.E222Q
c.664G>C
1 paper
NM_003082.4
p.D211delFs
c.633delT
2 papers
NM_003082.4
p.D211fs
c.631_632fs
1 paper
NM_003082.4
p.E178_E179Splc
c.535-44C>T
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