Varaico: Literature-Extracted Genetic Variants

Gene:U2SURP
Variant:p.V650A

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.V650A
c.1949T>C
Surrounding Variants
1 paper
NM_001080415.2
p.I682T
c.2045T>C
1 paper
NM_001080415.2
p.R635C
c.1903C>T
1 paper
NM_001080415.2
p.Y634C
c.1901A>G
1 paper
NM_001080415.2
p.L630L
c.1890C>T
2 papers
NM_001080415.2
p.L623fs
c.1867_1868fs
1 paper
NM_001080415.2
p.K622R
c.1865A>G
1 paper
NM_001080415.2
p.P698S
c.2092C>T
1 paper
NM_001080415.2
p.E702G
c.2105A>G
1 paper
NM_001080415.2
p.L708L
c.2124G>A
2 papers
NM_001080415.2
p.T719I
c.2156C>T
1 paper
NM_001080415.2
p.D722N
c.2164G>A
1 paper
NM_001080415.2
p.D735Y
c.2203G>T
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