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

30 papers

NM_013382.7

p.Y666C

c.1997A>G

Surrounding Variants

1 paper

NM_013382.7

p.H664Q

c.1992C>G

1 paper

NM_013382.7

p.H664Q

c.1992C>A

1 paper

NM_013382.7

p.A669T

c.2005G>A

3 papers

NM_013382.7

p.R659Q

c.1976G>A

3 papers

NM_013382.7

p.R659W

c.1975C>T

2 papers

NM_013382.7

p.T677I

c.2030C>T

1 paper

NM_013382.7

p.F655fs

c.1963_1964fs

1 paper

NM_013382.7

p.P653L

c.1958C>T

2 papers

NM_013382.7

p.G646S

c.1936G>A

2 papers

NM_013382.7

p.G640D

c.1919G>A

3 papers

NM_013382.7

p.R638*

c.1912C>T

1 paper

NM_013382.7

p.L637L

c.1911T>A