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

1–12 of 80 variants

12 papers

NM_013328.4

p.R119C

c.355C>T

10 papers

NM_013328.4

p.R199W

c.595C>T

9 papers

NM_013328.4

p.R251C

c.751C>T

8 papers

NM_013328.4

p.R266*

c.796C>T

8 papers

NM_013328.4

p.R266*

c.796C>T

5 papers

NM_013328.4

p.Q10*

c.28C>T

5 papers

NM_013328.4

p.C232G

c.694T>G

4 papers

NM_013328.4

p.R46_K47Splc

c.139-3C>G

4 papers

NM_013328.4

p.V258A

c.773T>C

3 papers

NM_013328.4

p.V193M

c.577G>A

3 papers

NM_013328.4

p.R199Q

c.596G>A

2 papers

NM_013328.4

p.R119H

c.356G>A