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

10 papers

NM_206965.2

p.G330insFs

c.990dupG

Surrounding Variants

5 papers

NM_206965.2

p.P331fs

c.991_992fs

1 paper

NM_206965.2

p.P331fs

c.991_992fs

1 paper

NM_206965.2

p.R333delFs

c.997delG

1 paper

NM_206965.2

p.R333fs

c.997_998fs

1 paper

NM_206965.2

p.L325P

c.974T>C

1 paper

NM_206965.2

p.S339F

c.1016C>T

1 paper

NM_206965.2

p.R341C

c.1021C>T

1 paper

NM_206965.2

p.F343C

c.1028T>G

1 paper

NM_206965.2

p.G345R

c.1033G>A

1 paper

NM_206965.2

p.G345insFs

c.1033_1034insG

1 paper

NM_206965.2

p.R350H

c.1049G>A

1 paper

NM_206965.2

p.P354S

c.1060C>T