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

8 papers

NM_001077365.2

p.L421del1

c.1261_1262delCTC

Surrounding Variants

2 papers

NM_001077365.2

p.L421delFs

c.1261_1262delCT

1 paper

NM_001077365.2

p.L421fs

c.1261_1262fs

2 papers

NM_001077365.2

p.L421F

c.1261C>T

2 papers

NM_001077365.2

p.L421fs

c.1261_1262fs

2 papers

NM_007171.4

p.L446_E447Splc

c.1338+1G>A

NM_001077365.2

p.L424_E425Splc

c.1272+1G>A

1 paper

NM_001077365.2

p.L424_E425Splc

c.1272+2T>A

2 papers

NM_001077365.2

p.N413K

c.1239C>A

1 paper

NM_001077365.2

p.N413K

c.1239C>G

1 paper

NM_001077365.2

p.D411E

c.1233C>A

1 paper

NM_001077365.2

p.D411E

c.1233C>G

1 paper

NM_001077365.2

p.S407F

c.1220C>T

1 paper

NM_007171.4

p.V428D

c.1283T>A