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

2 papers

NM_206965.2

p.M75L

c.223A>C

Surrounding Variants

2 papers

NM_206965.2

p.M75L

c.223A>T

1 paper

NM_206965.2

p.R77M

c.230G>T

1 paper

NM_206965.2

p.R71Q

c.212G>A

2 papers

NM_206965.2

p.R71*

c.211C>T

2 papers

NM_206965.2

p.Q79P

c.236A>C

1 paper

NM_206965.2

p.L63del1

c.187_188delGAG

1 paper

NM_206965.2

p.G61V

c.182G>T

1 paper

NM_206965.2

p.C57W

c.171C>G

1 paper

NM_206965.2

p.P54L

c.161C>T

1 paper

NM_206965.2

p.V52V

c.156G>T

1 paper

NM_206965.2

p.F51L

c.153C>G

1 paper

NM_206965.2

p.F51L

c.153C>A