Varaico: Literature-Extracted Genetic Variants

POMT1

242 papers

RefSeq Summary

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the en...

Pfam Domains

PMTaa 1–115UCSCDolichyl-phosphate-mannose-protein mannosyltransferase

PMTaa 20–289UCSCDolichyl-phosphate-mannose-protein mannosyltransferase

MIRaa 332–500UCSCMIR domain

PMT_4TMCaa 542–740UCSCC-terminal four TMM region of protein-O-mannosyltransferase

Gene Aliases

HGNC Name

protein O-mannosyltransferase 1

HGNC Alias Symbol

LGMD2K

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001077365.2

p.L87fs

c.259_260fs

Surrounding Variants

1 paper

NM_001077365.2

p.L87insFs

c.260dupT

3 papers

NM_001077365.2

p.G84D

c.251G>A

1 paper

NM_001077365.2

p.D83N

c.247G>A

1 paper

NM_001077365.2

p.E94K

c.280G>A

8 papers

NM_001077365.2

p.E94Splc

c.280+1G>T

1 paper

NM_001077365.2

p.G77Splc

c.229+2T>C

13 papers

NM_001077365.2

p.G76R

c.226G>A

14 papers

NM_001077365.2

p.G76R

c.226G>C

1 paper

NM_001077365.2

p.A74V

c.221C>T

1 paper

NM_001077365.2

p.M71V

c.211A>G

1 paper

NM_001077365.2

p.P67Q

c.200C>A

4 papers

NM_001077365.2

p.P66L

c.197C>T