Varaico: Literature-Extracted Genetic Variants

TMTC2

57 papers

RefSeq Summary

The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being inv...

Pfam Domains

TMTC_DUF1736aa 247–321UCSCProtein O-mannosyl-transferase TMTC, DUF1736

TPR_16aa 498–561UCSCTetratricopeptide repeat

TPR_16aa 537–587UCSCTetratricopeptide repeat

TPR_12aa 559–637UCSCTetratricopeptide repeat

TPR_8aa 677–710UCSCTetratricopeptide repeat

TPR_1aa 779–812UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

transmembrane O-mannosyltransferase targeting cadherins 2

HGNC Alias Symbol

DKFZp762A217

Papers

RefSeq ID

Protein change

DNA change

1–12 of 53 variants

4 papers

NM_152588.3

p.L94*

c.281T>A

3 papers

NM_152588.3

p.V381I

c.1141G>A

2 papers

NM_152588.3

p.E187K

c.559G>A

2 papers

NM_152588.3

p.T409R

c.1226C>G

2 papers

NM_152588.3

p.G620E

c.1859G>A

2 papers

NM_152588.3

p.Y622C

c.1865A>G

1 paper

NM_152588.3

p.S7I

c.20G>T

1 paper

NM_152588.3

p.A13V

c.38C>T

1 paper

NM_152588.3

p.R74H

c.221G>A

1 paper

NM_152588.3

p.H77H

c.231T>C

1 paper

NM_152588.3

p.T103I

c.308C>T

1 paper

NM_152588.3

p.S104C

c.310A>T