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.C173F

c.518G>T

Surrounding Variants

2 papers

NM_001193451.2

p.A168A

c.504G>A

1 paper

NM_001193451.2

p.C191R

c.571T>C

1 paper

NM_001193451.2

p.P197L

c.590C>T

1 paper

NM_001193451.2

p.F204F

c.612C>T

1 paper

NM_001193451.2

p.T213delFs

c.637delT

1 paper

NM_001193451.2

p.T213fs

c.637_638fs

1 paper

NM_001193451.2

p.E220D

c.660G>T

1 paper

NM_001193451.2

p.E220D

c.660G>C

1 paper

NM_001193451.2

p.G227*

c.679G>T

1 paper

NM_001193451.2

p.L234F

c.700C>T

1 paper

NM_001193451.2

p.S245N

c.734G>A

1 paper

NM_001193451.2

p.R252P

c.755G>C