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.V99insFs

c.295dupG

Surrounding Variants

1 paper

NM_206965.2

p.V99fs

c.295_296fs

2 papers

NM_206965.2

p.V101M

c.301G>A

3 papers

NM_206965.2

p.C107R

c.319T>C

1 paper

NM_206965.2

p.D89G

c.266A>G

1 paper

NM_206965.2

p.G86_A87delFs

c.256_259del4

1 paper

NM_206965.2

p.G86fs

c.256_257fs

1 paper

NM_206965.2

p.Q113*

c.337C>T

1 paper

NM_206965.2

p.Q113H

c.339G>T

1 paper

NM_206965.2

p.Q113H

c.339G>C

1 paper

NM_206965.2

p.R84delFs

c.251_252delGC

1 paper

NM_206965.2

p.R84H

c.251G>A

1 paper

NM_206965.2

p.R84fs

c.250_251fs