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

1–12 of 115 variants

10 papers

NM_206965.2

p.G330insFs

c.990dupG

5 papers

NM_206965.2

p.P331fs

c.991_992fs

5 papers

NM_206965.2

p.L536*

c.1607T>A

4 papers

NM_206965.2

p.R135C

c.403C>T

4 papers

NM_206965.2

p.E456insFs

c.1366dupG

3 papers

NM_206965.2

p.C107R

c.319T>C

3 papers

NM_206965.2

p.R299P

c.896G>C

2 papers

NM_206965.2

p.R71*

c.211C>T

2 papers

NM_206965.2

p.M75L

c.223A>T

2 papers

NM_206965.2

p.M75L

c.223A>C

2 papers

NM_206965.2

p.Q79P

c.236A>C

2 papers

NM_206965.2

p.V101M

c.301G>A