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

12 papers

NM_001077365.2

p.A647T

c.1939G>A

NM_007171.4

p.A669T

c.2005G>A

Surrounding Variants

1 paper

NM_007171.4

p.Y666C

c.1997A>G

1 paper

NM_007171.4

p.L663F

c.1987C>T

1 paper

NM_001077365.2

p.L659L

c.1975C>T

1 paper

NM_007171.4

p.P653L

c.1958C>T

1 paper

NM_007171.4

p.H687insFs

c.2059dupC

1 paper

NM_007171.4

p.H687fs

c.2059_2060fs

3 papers

NM_001077365.2

p.C667insFs

c.1999_2000insT

1 paper

NM_001077365.2

p.C667fs

c.1999_2000fs

1 paper

NM_001077365.2

p.C667W

c.2001C>G

2 papers

NM_001077365.2

p.G623A

c.1868G>C

2 papers

NM_007171.4

p.C643fs

c.1927_1928fs

3 papers

NM_001077365.2

p.L620L

c.1858C>T