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.R204W

c.610C>T

Surrounding Variants

1 paper

NM_206965.2

p.R204Q

c.611G>A

1 paper

NM_206965.2

p.A200P

c.598G>C

1 paper

NM_206965.2

p.R208H

c.623G>A

1 paper

NM_206965.2

p.G209R

c.625G>A

1 paper

NM_206965.2

p.T192_Q195del0

c.574_585del12

1 paper

NM_206965.2

p.F185_I187Fs

c.554_559delinsTGTGFs

1 paper

NM_206965.2

p.A178V

c.533C>T

2 papers

NM_206965.2

p.G177E

c.530G>A

2 papers

NM_206965.2

p.G172W

c.514G>T

1 paper

NM_206965.2

p.D157N

c.469G>A

1 paper

NM_206965.2

p.A156P

c.466G>C

2 papers

NM_206965.2

p.L153F

c.457C>T