Varaico: Literature-Extracted Genetic Variants

TMTC1

12p11.22 (UCSC)OMIM GTEx

83 papers

Pfam Domains

TMTC_DUF1736aa 297–365UCSCProtein O-mannosyl-transferase TMTC, DUF1736

TMTC_DUF1736aa 353–427UCSCProtein O-mannosyl-transferase TMTC, DUF1736

TPR_11aa 490–526UCSCTPR repeat

TPR_2aa 545–578UCSCTetratricopeptide repeat

TPR_16aa 616–678UCSCTetratricopeptide repeat

TPR_12aa 676–744UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

transmembrane O-mannosyltransferase targeting cadherins 1

HGNC Alias Symbols

ARG99; OLF; FLJ31400; FLJ41625

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001193451.2

p.T107S

c.319A>T

Surrounding Variants

1 paper

NM_001193451.2

p.I104L

c.310A>T

1 paper

NM_001193451.2

p.L102Q

c.305T>A

1 paper

NM_001193451.2

p.F114V

c.340T>G

1 paper

NM_175861.3

p.A8insFs

c.22dupG

1 paper

NM_001193451.2

p.V117I

c.349G>A

1 paper

NM_001193451.2

p.V128L

c.382G>T

1 paper

NM_001193451.2

p.V128L

c.382G>C

1 paper

NM_001193451.2

p.L129M

c.385C>A

1 paper

NM_001193451.2

p.I156insFs

c.466_467insAC

2 papers

NM_001193451.2

p.T158I

c.473C>T

2 papers

NM_001193451.2

p.A168A

c.504G>A

1 paper

NM_001193451.2

p.C173F

c.518G>T