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.L201_A202del2

c.601_605del6

Surrounding Variants

1 paper

NM_006907.4

p.L201delFs

c.603delC

2 papers

NM_006907.4

p.R200delFs

c.600delG

3 papers

NM_006907.4

p.G206W

c.616G>T

11 papers

NM_006907.4

p.G206R

c.616G>C

14 papers

NM_006907.4

p.G206R

c.616G>A

1 paper

NM_006907.4

p.G206fs

c.616_617fs

1 paper

NM_006907.4

p.P198delFs

c.593delG

1 paper

NM_006907.4

p.P198S

c.592C>T

1 paper

NM_006907.4

p.L197insFs

c.591dupT

3 papers

NM_006907.4

p.L211_G212Splc

c.633+1G>C

1 paper

NM_006907.4

p.K194E

c.580A>G

3 papers

NM_006907.4

p.G192V

c.575G>T