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

3 papers

NM_006907.4

p.I30K

c.89T>A

Surrounding Variants

1 paper

NM_006907.4

p.A26_A27insFs

c.78_79insC

2 papers

NM_006907.4

p.S34insFs

c.100_101insA

1 paper

NM_006907.4

p.A26V

c.77C>T

1 paper

NM_006907.4

p.G23insFs

c.68dupG

1 paper

NM_006907.4

p.M37R

c.110T>G

1 paper

NM_006907.4

p.G23R

c.67G>C

1 paper

NM_006907.4

p.A40_T41delFs

c.120_121delTG

1 paper

NM_006907.4

p.A44delFs

c.130delC

5 papers

NM_006907.4

p.R46_K47Splc

c.138+1G>A

1 paper

NM_006907.4

p.R46_K47Splc

c.138+2T>C

1 paper

NM_006907.4

p.G23Splc

c.67+2T>A

1 paper

NM_006907.4

p.A22V

c.65C>T