Varaico: Literature-Extracted Genetic Variants

PYCR2

62 papers

RefSeq Summary

This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline b...

Pfam Domains

F420_oxidoredaa 2–98UCSCNADP oxidoreductase coenzyme F420-dependent

P5CR_dimeraa 93–194UCSCPyrroline-5-carboxylate reductase dimerisation

Gene Aliases

HGNC Name

pyrroline-5-carboxylate reductase 2

HGNC Alias Symbol

P5CR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013328.4

p.Y180_A181Splc

c.541-119G>A

Surrounding Variants

2 papers

NM_013328.4

p.Y180_A181Splc

c.540+2T>G

1 paper

NM_013328.4

p.S174insFs

c.520dupA

1 paper

NM_013328.4

p.S174fs

c.520_521fs

1 paper

NM_013328.4

p.D186Y

c.556G>T

3 papers

NM_013328.4

p.V193M

c.577G>A

2 papers

NM_013328.4

p.M195T

c.584T>C

1 paper

NM_013328.4

p.G157D

c.470G>A

10 papers

NM_013328.4

p.R199W

c.595C>T

3 papers

NM_013328.4

p.R199Q

c.596G>A

1 paper

NM_013328.4

p.L142_M153ins4

c.426_458dup33

1 paper

NM_013328.4

p.I203V

c.607A>G

1 paper

NM_013328.4

p.L149_E150delFs

c.445_448del4