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.P291S

c.871C>T

Surrounding Variants

1 paper

NM_001193451.2

p.H289Q

c.867C>A

1 paper

NM_001193451.2

p.H289Y

c.865C>T

1 paper

NM_001193451.2

p.P293L

c.878C>T

1 paper

NM_001193451.2

p.P294T

c.880C>A

1 paper

NM_001193451.2

p.G287A

c.860G>C

1 paper

NM_001193451.2

p.G287D

c.860G>A

1 paper

NM_001193451.2

p.E295K

c.883G>A

1 paper

NM_001193451.2

p.P296S

c.886C>T

1 paper

NM_001193451.2

p.K297R

c.890A>G

1 paper

NM_001193451.2

p.F301L

c.901T>C

1 paper

NM_001193451.2

p.R306*

c.916C>T

1 paper

NM_001193451.2

p.K275T

c.824A>C