Varaico: Literature-Extracted Genetic Variants

TMTC4

44 papers

RefSeq Summary

This gene encodes a transmembrane protein that belongs to family of proteins containing an N-terminal transmembrane domain and a C-terminal tetratricopeptide repeat (TPR) domain. TPR domains mediate p...

Pfam Domains

TMTC_DUF1736aa 292–366UCSCProtein O-mannosyl-transferase TMTC, DUF1736

TPR_16aa 486–548UCSCTetratricopeptide repeat

TPR_16aa 540–585UCSCTetratricopeptide repeat

TPR_16aa 588–652UCSCTetratricopeptide repeat

TPR_17aa 674–707UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

transmembrane O-mannosyltransferase targeting cadherins 4

HGNC Alias Symbols

FLJ14624; FLJ22153

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032813.5

p.M1I

c.3G>A

Surrounding Variants

1 paper

NM_032813.5

p.M1I

c.3G>T

1 paper

NM_032813.5

p.M1I

c.3G>C

1 paper

NM_032813.5

p.G9R

c.25G>A

1 paper

NM_032813.5

p.P15R

c.44C>G

1 paper

NM_032813.5

p.A21A

c.63C>T

1 paper

NM_032813.5

p.T79P

c.235A>C

1 paper

NM_032813.5

p.H87Y

c.259C>T

1 paper

NM_032813.5

p.T98P

c.292A>C

1 paper

NM_032813.5

p.T107S

c.319A>T

2 papers

NM_032813.5

p.G151S

c.451G>A

1 paper

NM_032813.5

p.A176V

c.527C>T

1 paper

NM_032813.5

p.T182T

c.546C>T