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.T171M

c.512C>T

Surrounding Variants

1 paper

NM_006907.4

p.G172E

c.515G>A

1 paper

NM_006907.4

p.V170I

c.508G>A

1 paper

NM_006907.4

p.G177S

c.529G>A

1 paper

NM_006907.4

p.E161_E164del0

c.483_491del9

8 papers

NM_006907.4

p.A179T

c.535G>A

1 paper

NM_006907.4

p.P178delFs

c.534delG

1 paper

NM_006907.4

p.A179fs

c.535_536fs

1 paper

NM_006907.4

p.Y180F

c.539A>T

7 papers

NM_001282281.2

p.Y207_A208Splc

c.621+1G>A

NM_006907.4

p.Y180_A181Splc

c.540+1G>A

1 paper

NM_006907.4

p.T160M

c.479C>T

1 paper

NM_006907.4

p.C159C

c.477C>T

1 paper

NM_006907.4

p.L152P

c.455T>C