Varaico: Literature-Extracted Genetic Variants

PYCR1

131 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cel...

Pfam Domains

F420_oxidoredaa 2–98UCSCNADP oxidoreductase coenzyme F420-dependent

P5CR_dimeraa 164–268UCSCPyrroline-5-carboxylate reductase dimerisation

Gene Aliases

HGNC Name

pyrroline-5-carboxylate reductase 1

HGNC Alias Symbol

P5C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006907.4

p.A22P

c.64G>C

Surrounding Variants

1 paper

NM_006907.4

p.A22V

c.65C>T

1 paper

NM_006907.4

p.T20insFs

c.59dupC

1 paper

NM_006907.4

p.G23Splc

c.67+2T>A

1 paper

NM_006907.4

p.T20S

c.58A>T

1 paper

NM_006907.4

p.K17delFs

c.50delT

3 papers

NM_006907.4

p.Q10*

c.28C>T

2 papers

NM_006907.4

p.A8D

c.23C>A

1 paper

NM_006907.4

p.I6insFs

c.16_17dupAT

1 paper

NM_006907.4

p.G4fs

c.10_11fs

1 paper

NM_006907.4

p.G4delFs

c.11delC

2 papers

NM_006907.4

p.G4V

c.11G>T

1 paper

NM_006907.4

p.G4D

c.11G>A