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.H416Q

c.1248C>G

Surrounding Variants

2 papers

NM_013382.7

p.H416Q

c.1248C>A

1 paper

NM_013382.7

p.E418Splc

c.1253+2T>G

15 papers

NM_013382.7

p.R413P

c.1238G>C

4 papers

NM_013382.7

p.R413*

c.1237C>T

18 papers

NM_013382.7

p.R421W

c.1261C>T

3 papers

NM_013382.7

p.R421Q

c.1262G>A

1 paper

NM_013382.7

p.R421delFs

c.1261delG

1 paper

NM_013382.7

p.H424Y

c.1270C>T

1 paper

NM_013382.7

p.S425N

c.1274G>A

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