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.I514V

c.1540A>G

Surrounding Variants

1 paper

NM_206965.2

p.V532L

c.1594G>T

1 paper

NM_206965.2

p.V532L

c.1594G>C

5 papers

NM_206965.2

p.L536*

c.1607T>A

1 paper

NM_206965.2

p.G490G

c.1470C>T

1 paper

NM_206965.2

p.G490D

c.1469G>A

1 paper

NM_206965.2

p.A484D

c.1451C>A

1 paper

NM_206965.2

p.A483V

c.1448C>T

1 paper

NM_206965.2

p.Q481_V482Splc

c.1443+5G>T

1 paper

NM_206965.2

p.S478*

c.1433C>G

1 paper

NM_206965.2

p.V458del1

c.1372_1373delCAC

4 papers

NM_206965.2

p.E456insFs

c.1366dupG

2 papers

NM_206965.2

p.E456fs

c.1366_1367fs