Varaico: Literature-Extracted Genetic Variants

Gene:RNPC3
Variant:p.N347_H348del2

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.N347_H348del2
c.1039_1043del6
Surrounding Variants
1 paper
NM_017619.4
p.A332S
c.994G>T
1 paper
NM_017619.4
p.G317S
c.949G>A
1 paper
NM_017619.4
p.S298Splc
c.894-2A>G
1 paper
NM_017619.4
p.D349Splc
c.1046-7C>G
1 paper
NM_017619.4
p.A357E
c.1070C>A
1 paper
NM_017619.4
p.I360M
c.1080A>G
1 paper
NM_017619.4
p.D380N
c.1138G>A
1 paper
NM_017619.4
p.R398K
c.1193G>A
1 paper
NM_017619.4
p.K286fs
c.856_857fs
1 paper
NM_017619.4
p.A264G
c.791C>G
1 paper
NM_017619.4
p.N258D
c.772A>G
1 paper
NM_017619.4
p.M257I
c.771G>A
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