Varaico: Literature-Extracted Genetic Variants

Gene:U2SURP
Variant:p.I431M

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
2 papers
NM_001080415.2
p.I431M
c.1293A>G
Surrounding Variants
1 paper
NM_001080415.2
p.A429G
c.1286C>G
1 paper
NM_001080415.2
p.A429T
c.1285G>A
1 paper
NM_001080415.2
p.A429S
c.1285G>T
1 paper
NM_001080415.2
p.I435I
c.1305A>T
1 paper
NM_001080415.2
p.E464*
c.1390G>T
1 paper
NM_001080415.2
p.L481V
c.1441C>G
1 paper
NM_001080415.2
p.Q482_G483Splc
c.1447-1G>T
1 paper
NM_001080415.2
p.A396D
c.1187C>A
1 paper
NM_001080415.2
p.S379S
c.1137C>T
1 paper
NM_001080415.2
p.P376A
c.1126C>G
1 paper
NM_001080415.2
p.P375A
c.1123C>G
1 paper
NM_001080415.2
p.T373M
c.1118C>T
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