Varaico: Literature-Extracted Genetic Variants

Gene:PRR30
Variant:p.P142L

PRR30

32 papers

Pfam Domains

DUF4679aa 1–411UCSCDomain of unknown function (DUF4679)

Gene Aliases

HGNC Name

proline rich 30

HGNC Previous Symbol

C2orf53

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178553.4
p.P142L
c.425C>T
Surrounding Variants
1 paper
NM_178553.4
p.H148Q
c.444C>G
1 paper
NM_178553.4
p.H148Q
c.444C>A
1 paper
NM_178553.4
p.S121Y
c.362C>A
1 paper
NM_178553.4
p.R177H
c.530G>A
1 paper
NM_178553.4
p.P106fs
c.316_317fs
1 paper
NM_178553.4
p.P106S
c.316C>T
1 paper
NM_178553.4
p.H99Y
c.295C>T
1 paper
NM_178553.4
p.P92S
c.274C>T
1 paper
NM_178553.4
p.S198I
c.593G>T
1 paper
NM_178553.4
p.E199K
c.595G>A
1 paper
NM_178553.4
p.S80F
c.239C>T
1 paper
NM_178553.4
p.R206W
c.616A>T
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