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.P262H

c.785C>A

Surrounding Variants

1 paper

NM_001193451.2

p.S263P

c.787T>C

1 paper

NM_001193451.2

p.Q261H

c.783G>T

1 paper

NM_001193451.2

p.Q261H

c.783G>C

1 paper

NM_001193451.2

p.P260L

c.779C>T

1 paper

NM_001193451.2

p.S259I

c.776G>T

1 paper

NM_001193451.2

p.Q255E

c.763C>G

1 paper

NM_001193451.2

p.R252P

c.755G>C

1 paper

NM_001193451.2

p.R252H

c.755G>A

1 paper

NM_001193451.2

p.K275T

c.824A>C

1 paper

NM_001193451.2

p.S245N

c.734G>A

1 paper

NM_001193451.2

p.G287A

c.860G>C

1 paper

NM_001193451.2

p.G287D

c.860G>A