Varaico: Literature-Extracted Genetic Variants

POMT2

262 papers

RefSeq Summary

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the en...

Pfam Domains

PMTaa 62–306UCSCDolichyl-phosphate-mannose-protein mannosyltransferase

MIRaa 353–513UCSCMIR domain

PMT_4TMCaa 538–748UCSCC-terminal four TMM region of protein-O-mannosyltransferase

Gene Aliases

HGNC Name

protein O-mannosyltransferase 2

HGNC Alias Symbol

LGMD2N

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013382.7

p.L155P

c.464T>C

Surrounding Variants

1 paper

NM_013382.7

p.F158fs

c.472_473fs

1 paper

NM_013382.7

p.P157delFs

c.471delG

4 papers

NM_013382.7

p.Y160C

c.479A>G

1 paper

NM_013382.7

p.V163L

c.487G>T

1 paper

NM_013382.7

p.V163L

c.487G>C

1 paper

NM_013382.7

p.D165fs

c.493_494fs

1 paper

NM_013382.7

p.S171L

c.512C>T

1 paper

NM_013382.7

p.A172insFs

c.515dupC

1 paper

NM_013382.7

p.T176I

c.527C>T

1 paper

NM_013382.7

p.G146fs

c.436_437fs

1 paper

NM_013382.7

p.G146delFs

c.437delC

1 paper

NM_013382.7

p.Y141S

c.422A>C