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.V128A

c.383T>C

Surrounding Variants

1 paper

NM_013328.4

p.T133I

c.398C>T

1 paper

NM_013328.4

p.V134M

c.400G>A

1 paper

NM_013328.4

p.A136D

c.407C>A

2 papers

NM_013328.4

p.R119H

c.356G>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

1 paper

NM_013328.4

p.L142R

c.425T>G

1 paper

NM_013328.4

p.V143L

c.427G>T

1 paper

NM_013328.4

p.V143L

c.427G>C

1 paper

NM_013328.4

p.Q112Q

c.336G>A

1 paper

NM_013328.4

p.D145N

c.433G>A