Varaico: Literature-Extracted Genetic Variants

Gene:U2SURP
Variant:p.A143A

U2SURP

63 papers

Pfam Domains

RRM_1aa 276–349UCSCRNA recognition motif
RRM_1aa 276–349UCSCRNA recognition motif
RRM_1aa 276–349UCSCRNA recognition motif
Surpaa 428–480UCSCSurp module
Surpaa 428–480UCSCSurp module
Surpaa 428–480UCSCSurp module

Gene Aliases

HGNC Name

U2 snRNP associated SURP domain containing

HGNC Alias Symbols

fSAPa; SR140

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080415.2
p.A143A
c.429A>G
Surrounding Variants
1 paper
NM_001080415.2
p.A143A
c.429A>T
1 paper
NM_001080415.2
p.P190fs
c.568_569fs
1 paper
NM_001080415.2
p.P190_P191Splc
c.570+71C>A
1 paper
NM_001080415.2
p.T95insFs
c.284_285insTT
1 paper
NM_001080415.2
p.K80Q
c.238A>C
1 paper
NM_001080415.2
p.S67F
c.200C>T
1 paper
NM_001080415.2
p.P47fs
c.139_140fs
1 paper
NM_001080415.2
p.R242H
c.725G>A
2 papers
NM_001080415.2
p.R243H
c.728G>A
1 paper
NM_001080415.2
p.A247T
c.739G>A
1 paper
NM_001080415.2
p.A247G
c.740C>G
1 paper
NM_001080415.2
p.N282D
c.844A>G
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