Varaico: Literature-Extracted Genetic Variants

Gene:RNPC3
Variant:p.R502*

RNPC3

70 papers

RefSeq Summary

Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The m...

Pfam Domains

RRM_1aa 29–96UCSCRNA recognition motif
RRM_1aa 422–497UCSCRNA recognition motif

Gene Aliases

HGNC Name

RNA binding region (RNP1, RRM) containing 3

HGNC Alias Symbols

KIAA1839; FLJ20008; RBM40; SNRNP65

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_017619.4
p.R502*
c.1504C>T
Surrounding Variants
1 paper
NM_017619.4
p.R502G
c.1504C>G
1 paper
NM_017619.4
p.M496V
c.1486A>G
1 paper
NM_017619.4
p.G488G
c.1464A>G
2 papers
NM_017619.4
p.L483F
c.1449A>C
2 papers
NM_017619.4
p.L483F
c.1449A>T
12 papers
NM_017619.4
p.P474T
c.1420C>A
1 paper
NM_017619.4
p.P474A
c.1420C>G
2 papers
NM_017619.4
p.P474fs
c.1420_1421fs
1 paper
NM_017619.4
p.Q468K
c.1402C>A
2 papers
NM_017619.4
p.K466Q
c.1396A>C
1 paper
NM_017619.4
p.G463V
c.1388G>T
2 papers
NM_017619.4
p.I457T
c.1370T>C
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