Varaico: Literature-Extracted Genetic Variants

Gene:RNPC3
Variant:p.M190V

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
1 paper
NM_017619.4
p.M190V
c.568A>G
Surrounding Variants
2 papers
NM_017619.4
p.R205*
c.613C>T
1 paper
NM_017619.4
p.M208_Y209Splc
c.624+1G>T
1 paper
NM_017619.4
p.P162S
c.484C>T
1 paper
NM_017619.4
p.K158R
c.473A>G
1 paper
NM_017619.4
p.Q225*
c.673C>T
1 paper
NM_017619.4
p.P226S
c.676C>T
5 papers
NM_017619.4
p.G148A
c.443G>C
1 paper
NM_017619.4
p.E133D
c.399A>C
1 paper
NM_017619.4
p.E133D
c.399A>T
1 paper
NM_017619.4
p.D250N
c.748G>A
1 paper
NM_017619.4
p.K132insFs
c.396dupA
1 paper
NM_017619.4
p.D127N
c.379G>A
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