Varaico: Literature-Extracted Genetic Variants

FTCD

100 papers

RefSeq Summary

The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this...

Pfam Domains

FTCD_Naa 4–179UCSCFormiminotransferase domain, N-terminal subdomain

FTCDaa 181–324UCSCFormiminotransferase domain

FTCD_Caa 339–520UCSCFormiminotransferase-cyclodeaminase

Gene Aliases

HGNC Name

formimidoyltransferase cyclodeaminase

HGNC Previous Name

formiminotransferase cyclodeaminase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_206965.2

p.E251K

c.751G>A

Surrounding Variants

1 paper

NM_206965.2

p.E251Q

c.751G>C

1 paper

NM_206965.2

p.E251_E252del2

c.751_755del6

1 paper

NM_206965.2

p.T248R

c.743C>G

1 paper

NM_206965.2

p.C254R

c.760T>C

1 paper

NM_206965.2

p.H247R

c.740A>G

2 papers

NM_206965.2

p.R255*

c.763C>T

1 paper

NM_206965.2

p.V243A

c.728T>C

1 paper

NM_206965.2

p.Q258_E259Splc

c.775-56G>T

1 paper

NM_206965.2

p.S261N

c.782G>A

1 paper

NM_206965.2

p.Q268_L269insC

c.802_806ins3

1 paper

NM_206965.2

p.L269V

c.805C>G

1 paper

NM_206965.2

p.G271_V273del0

c.813_818del6