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

8 papers

NM_013328.4

p.R266*

c.796C>T

Surrounding Variants

1 paper

NM_013328.4

p.R266Q

c.797G>A

2 papers

NM_001271681.2

p.R190*

c.568C>T

NM_013328.4

p.R264*

c.790C>T

1 paper

NM_013328.4

p.S261del1

c.781_782delGGA

4 papers

NM_013328.4

p.V258A

c.773T>C

1 paper

NM_013328.4

p.N256H

c.766A>C

1 paper

NM_013328.4

p.R251H

c.752G>A

9 papers

NM_013328.4

p.R251C

c.751C>T

1 paper

NM_013328.4

p.G249fs

c.745_746fs

1 paper

NM_013328.4

p.G248delFs

c.742delC

2 papers

NM_013328.4

p.G249V

c.746G>T

1 paper

NM_013328.4

p.G249fs

c.745_746fs

1 paper

NM_013328.4

p.S247fs

c.739_740fs