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.E128K

c.382G>A

Surrounding Variants

4 papers

NM_206965.2

p.R135C

c.403C>T

1 paper

NM_206965.2

p.R136Q

c.407G>A

1 paper

NM_206965.2

p.P139P

c.417G>A

1 paper

NM_206965.2

p.I141I

c.423C>T

2 papers

NM_206965.2

p.G144R

c.430G>C

2 papers

NM_206965.2

p.G144R

c.430G>A

1 paper

NM_206965.2

p.G144A

c.431G>C

2 papers

NM_206965.2

p.K151*

c.451A>T

2 papers

NM_206965.2

p.L153F

c.457C>T

1 paper

NM_206965.2

p.A156P

c.466G>C

1 paper

NM_206965.2

p.D157N

c.469G>A

2 papers

NM_206965.2

p.G172W

c.514G>T