Varaico: Literature-Extracted Genetic Variants

Gene:PRCC
Variant:p.E322K

PRCC

77 papers

RefSeq Summary

This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papi...

Pfam Domains

PRCCaa 275–491UCSCMitotic checkpoint regulator, MAD2B-interacting

Gene Aliases

HGNC Name

proline rich mitotic checkpoint control factor

HGNC Alias Symbol

RCCP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005973.5
p.E322K
c.964G>A
Surrounding Variants
1 paper
NM_005973.5
p.P320S
c.958C>T
1 paper
NM_005973.5
p.A327V
c.980C>T
1 paper
NM_005973.5
p.G328D
c.983G>A
1 paper
NM_005973.5
p.P310L
c.929C>T
1 paper
NM_005973.5
p.M335Fs
c.1003delinsGAFs
1 paper
NM_005973.5
p.E309V
c.926A>T
1 paper
NM_005973.5
p.T306M
c.917C>T
1 paper
NM_005973.5
p.D341N
c.1021G>A
1 paper
NM_005973.5
p.E301fs
c.901_902fs
1 paper
NM_005973.5
p.E300delFs
c.899delA
1 paper
NM_005973.5
p.N345T
c.1034A>C
1 paper
NM_005973.5
p.I295V
c.883A>G
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