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

1–12 of 169 variants

14 papers

NM_006907.4

p.G206R

c.616G>A

11 papers

NM_006907.4

p.G206R

c.616G>C

9 papers

NM_006907.4

p.R266Q

c.797G>A

8 papers

NM_006907.4

p.A179T

c.535G>A

8 papers

NM_006907.4

p.R266Q

c.797G>A

7 papers

NM_006907.4

p.P115delFs

c.345delG

7 papers

NM_006907.4

p.R119C

c.355C>T

7 papers

NM_006907.4

p.R119G

c.355C>G

7 papers

NM_006907.4

p.R119H

c.356G>A

6 papers

NM_006907.4

p.Y180_A181Splc

c.540+1G>A

6 papers

NM_006907.4

p.G248E

c.743G>A

5 papers

NM_006907.4

p.R46_K47Splc

c.138+1G>A