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.I78F

c.232A>T

Surrounding Variants

1 paper

NM_013328.4

p.P72T

c.214C>A

1 paper

NM_013328.4

p.A84A

c.252C>G

1 paper

NM_013328.4

p.D85insFs

c.253_254insT

1 paper

NM_013328.4

p.V86G

c.257T>G

1 paper

NM_013328.4

p.K106R

c.317A>G

4 papers

NM_013328.4

p.R46_K47Splc

c.139-3C>G

1 paper

NM_013328.4

p.Q112Q

c.336G>A

12 papers

NM_013328.4

p.R119C

c.355C>T

1 paper

NM_013328.4

p.R119G

c.355C>G

1 paper

NM_013328.4

p.R119S

c.355C>A

2 papers

NM_013328.4

p.R119H

c.356G>A

1 paper

NM_013328.4

p.V128A

c.383T>C