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.H424Y

c.1270C>T

Surrounding Variants

1 paper

NM_013382.7

p.S425N

c.1274G>A

3 papers

NM_013382.7

p.R421Q

c.1262G>A

1 paper

NM_013382.7

p.R421delFs

c.1261delG

18 papers

NM_013382.7

p.R421W

c.1261C>T

1 paper

NM_013382.7

p.H436Q

c.1308C>G

1 paper

NM_013382.7

p.H436Q

c.1308C>A

1 paper

NM_013382.7

p.V439fs

c.1315_1316fs

1 paper

NM_013382.7

p.V439V

c.1317C>T

1 paper

NM_013382.7

p.V439_G441delFs

c.1316_1322del7

2 papers

NM_013382.7

p.Y442D

c.1324T>G

1 paper

NM_013382.7

p.G443delins

c.1328_1329delinsAT

3 papers

NM_013382.7

p.I444_N445Splc

c.1333-14G>A