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.M37V

c.109A>G

Surrounding Variants

1 paper

NM_013328.4

p.R46_K47Splc

c.138+1G>T

1 paper

NM_013328.4

p.R17P

c.50G>C

1 paper

NM_013328.4

p.Y13*

c.39T>G

1 paper

NM_013328.4

p.Y13*

c.39T>A

5 papers

NM_013328.4

p.Q10*

c.28C>T

1 paper

NM_013328.4

p.M1I

c.3G>T

1 paper

NM_013328.4

p.M1I

c.3G>C

1 paper

NM_013328.4

p.M1I

c.3G>A

1 paper

NM_013328.4

p.M1T

c.2T>C

1 paper

NM_013328.4

p.M1V

c.1A>G

4 papers

NM_013328.4

p.R46_K47Splc

c.139-3C>G

1 paper

NM_013328.4

p.P72T

c.214C>A