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.L272_V273Splc

c.817-394A>G

Surrounding Variants

3 papers

NM_013382.7

p.P290S

c.868C>T

5 papers

NM_013382.7

p.P290L

c.869C>T

1 paper

NM_013382.7

p.L291V

c.871C>G

2 papers

NM_013382.7

p.A292P

c.874G>C

9 papers

NM_013382.7

p.L293H

c.878T>A

2 papers

NM_013382.7

p.Y294C

c.881A>G

1 paper

NM_013382.7

p.F302Y

c.905T>A

1 paper

NM_013382.7

p.K307fs

c.919_920fs

4 papers

NM_013382.7

p.L272_V273Splc

c.816+1G>A

1 paper

NM_013382.7

p.S271L

c.812C>T

1 paper

NM_013382.7

p.L268L

c.804C>G

1 paper

NM_013382.7

p.D267G

c.800A>G