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

2 papers

NM_013382.7

p.P524P

c.1572C>G

Surrounding Variants

1 paper

NM_013382.7

p.P524S

c.1570C>T

1 paper

NM_013382.7

p.K525N

c.1575G>T

1 paper

NM_013382.7

p.K525fs

c.1573_1574fs

1 paper

NM_013382.7

p.K525insFs

c.1573dupA

1 paper

NM_013382.7

p.K525N

c.1575G>C

5 papers

NM_013382.7

p.N523S

c.1568A>G

4 papers

NM_013382.7

p.N523T

c.1568A>C

2 papers

NM_013382.7

p.Y507*

c.1521C>G

2 papers

NM_013382.7

p.Y507*

c.1521C>A

6 papers

NM_013382.7

p.P506L

c.1517C>T

4 papers

NM_013382.7

p.E501A

c.1502A>C

9 papers

NM_013382.7

p.Q499R

c.1496A>G