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.K433T

c.1298A>C

Surrounding Variants

1 paper

NM_206965.2

p.D434D

c.1302C>T

1 paper

NM_206965.2

p.T437M

c.1310C>T

1 paper

NM_206965.2

p.T437fs

c.1309_1310fs

2 papers

NM_206965.2

p.A438V

c.1313C>T

1 paper

NM_206965.2

p.A438E

c.1313C>A

1 paper

NM_206965.2

p.R436_E442delFs

c.1308_1326del19

1 paper

NM_206965.2

p.T453M

c.1358C>T

2 papers

NM_206965.2

p.E456fs

c.1366_1367fs

4 papers

NM_206965.2

p.E456insFs

c.1366dupG

1 paper

NM_206965.2

p.V458del1

c.1372_1373delCAC

1 paper

NM_206965.2

p.S478*

c.1433C>G

1 paper

NM_206965.2

p.Q481_V482Splc

c.1443+5G>T