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

4 papers

NM_013382.7

p.A351delFs

c.1051delC

Surrounding Variants

1 paper

NM_013382.7

p.A351fs

c.1051_1052fs

1 paper

NM_013382.7

p.A351fs

c.1051_1052fs

6 papers

NM_013382.7

p.G353S

c.1057G>A

1 paper

NM_013382.7

p.R349Q

c.1046G>A

1 paper

NM_013382.7

p.G353insFs

c.1057_1058dupGG

1 paper

NM_013382.7

p.Y354C

c.1061A>G

1 paper

NM_013382.7

p.Y354fs

c.1060_1061fs

1 paper

NM_013382.7

p.L355P

c.1064T>C

1 paper

NM_013382.7

p.K346*

c.1036A>T

1 paper

NM_013382.7

p.H358Y

c.1072C>T

6 papers

NM_013382.7

p.T344I

c.1031C>T

1 paper

NM_013382.7

p.H358Q

c.1074C>G