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.K81Q

c.241A>C

Surrounding Variants

1 paper

NM_001193451.2

p.W79L

c.236G>T

2 papers

NM_001193451.2

p.D77Y

c.229G>T

1 paper

NM_001193451.2

p.N86I

c.257A>T

1 paper

NM_001193451.2

p.T87P

c.259A>C

1 paper

NM_001193451.2

p.W71*

c.213G>A

1 paper

NM_001193451.2

p.W71*

c.212G>A

1 paper

NM_001193451.2

p.S91P

c.271T>C

1 paper

NM_001193451.2

p.C96Y

c.287G>A

1 paper

NM_001193451.2

p.D62N

c.184G>A

2 papers

NM_001193451.2

p.I57T

c.170T>C

1 paper

NM_001193451.2

p.Y41*

c.123C>G

1 paper

NM_001193451.2

p.Y41*

c.123C>A