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.Q268_L269insC

c.802_806ins3

Surrounding Variants

1 paper

NM_206965.2

p.L269V

c.805C>G

1 paper

NM_206965.2

p.G271_V273del0

c.813_818del6

1 paper

NM_206965.2

p.S261N

c.782G>A

1 paper

NM_206965.2

p.L279_D280del0

c.835_840del6

1 paper

NM_206965.2

p.A281V

c.842C>T

1 paper

NM_206965.2

p.E287K

c.859G>A

1 paper

NM_206965.2

p.I293T

c.878T>C

1 paper

NM_206965.2

p.Q258_E259Splc

c.775-56G>T

1 paper

NM_206965.2

p.E297K

c.889G>A

3 papers

NM_206965.2

p.R299P

c.896G>C

1 paper

NM_206965.2

p.L302del1

c.904_906delCAG

2 papers

NM_206965.2

p.R255*

c.763C>T