Varaico: Literature-Extracted Genetic Variants

Gene:U2SURP
Variant:p.A247T

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.A247T
c.739G>A
Surrounding Variants
1 paper
NM_001080415.2
p.A247G
c.740C>G
1 paper
NM_001080415.2
p.N282D
c.844A>G
1 paper
NM_001080415.2
p.Q284_M285insTT
c.850_854ins6
2 papers
NM_001080415.2
p.R243H
c.728G>A
1 paper
NM_001080415.2
p.R242H
c.725G>A
1 paper
NM_001080415.2
p.Q284_M285Splc
c.853-31C>G
2 papers
NM_001080415.2
p.T310I
c.929C>T
1 paper
NM_001080415.2
p.A315T
c.943G>A
1 paper
NM_001080415.2
p.A315P
c.943G>C
1 paper
NM_001080415.2
p.G321S
c.961G>A
1 paper
NM_001080415.2
p.T373M
c.1118C>T
1 paper
NM_001080415.2
p.P375A
c.1123C>G
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