Varaico: Literature-Extracted Genetic Variants

GFOD1

6p24.1-p23 (UCSC)OMIM GTEx

20 papers

Pfam Domains

GFO_IDH_MocAaa 4–89UCSCOxidoreductase family, NAD-binding Rossmann fold

GFO_IDH_MocAaa 4–117UCSCOxidoreductase family, NAD-binding Rossmann fold

GFO_IDH_MocA_C3aa 128–259UCSCGFO/IDH/MocA C-terminal domain

Gene Aliases

HGNC Name

Gfo/Idh/MocA-like oxidoreductase domain containing 1

HGNC Previous Symbol

C6orf114

Papers

RefSeq ID

Protein change

DNA change

1–12 of 16 variants

2 papers

NM_018988.4

p.Q355*

c.1063C>T

1 paper

NM_018988.4

p.K22E

c.64A>G

1 paper

NM_018988.4

p.R34H

c.101G>A

1 paper

NM_018988.4

p.T83fs

c.247_248fs

1 paper

NM_018988.4

p.T105I

c.314C>T

1 paper

NM_018988.4

p.F128F

c.384C>T

1 paper

NM_018988.4

p.Y160D

c.478T>G

1 paper

NM_018988.4

p.G172S

c.514G>A

1 paper

NM_018988.4

p.S175F

c.524C>T

1 paper

NM_018988.4

p.G230R

c.688G>C

1 paper

NM_018988.4

p.G230R

c.688G>A

1 paper

NM_018988.4

p.G253D

c.758G>A