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

2 papers

NM_013328.4

p.Y180_A181Splc

c.540+2T>G

Surrounding Variants

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.G157D

c.470G>A

1 paper

NM_013328.4

p.L142_M153ins4

c.426_458dup33

1 paper

NM_013328.4

p.Y180_A181Splc

c.541-119G>A

1 paper

NM_013328.4

p.L149_E150delFs

c.445_448del4

1 paper

NM_013328.4

p.L148V

c.442C>G

1 paper

NM_013328.4

p.G146E

c.437G>A

1 paper

NM_013328.4

p.D145G

c.434A>G

1 paper

NM_013328.4

p.D145N

c.433G>A

1 paper

NM_013328.4

p.V143L

c.427G>T

1 paper

NM_013328.4

p.V143L

c.427G>C