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.Y339C

c.1016A>G

Surrounding Variants

1 paper

NM_013382.7

p.G340S

c.1018G>A

1 paper

NM_013382.7

p.L337insFs

c.1010dupT

1 paper

NM_013382.7

p.L337fs

c.1009_1010fs

12 papers

NM_013382.7

p.T344P

c.1030A>C

6 papers

NM_013382.7

p.T344I

c.1031C>T

1 paper

NM_013382.7

p.K346*

c.1036A>T

1 paper

NM_013382.7

p.R349Q

c.1046G>A

1 paper

NM_013382.7

p.A351fs

c.1051_1052fs

4 papers

NM_013382.7

p.A351delFs

c.1051delC

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.G353insFs

c.1057_1058dupGG