Varaico: Literature-Extracted Genetic Variants

Gene:PRCC
Variant:p.P240L

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.P240L
c.719C>T
Surrounding Variants
1 paper
NM_005973.5
p.P240S
c.718C>T
1 paper
NM_005973.5
p.S241S
c.723G>A
1 paper
NM_005973.5
p.P242S
c.724C>T
1 paper
NM_005973.5
p.S243C
c.728C>G
1 paper
NM_005973.5
p.T237_T238insT
c.709_713ins3
1 paper
NM_005973.5
p.I245V
c.733A>G
1 paper
NM_005973.5
p.I245M
c.735C>G
1 paper
NM_005973.5
p.G234D
c.701G>A
1 paper
NM_005973.5
p.A247_A253del7
c.739_758del21
1 paper
NM_005973.5
p.A247D
c.740C>A
1 paper
NM_005973.5
p.V232_T235delFs
c.696_705del10
1 paper
NM_005973.5
p.K250R
c.749A>G
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