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.S308Splc

c.924-2A>G

Surrounding Variants

2 papers

NM_013382.7

p.S308Splc

c.924-2A>C

1 paper

NM_013382.7

p.G313R

c.937G>C

1 paper

NM_013382.7

p.G313D

c.938G>A

1 paper

NM_013382.7

p.R322W

c.964C>T

3 papers

NM_013382.7

p.H336Splc

c.1006+1G>A

1 paper

NM_013382.7

p.H336Splc

c.1006+5G>A

1 paper

NM_013382.7

p.K307fs

c.919_920fs

1 paper

NM_013382.7

p.F302Y

c.905T>A

2 papers

NM_013382.7

p.Y294C

c.881A>G

9 papers

NM_013382.7

p.L293H

c.878T>A

2 papers

NM_013382.7

p.A292P

c.874G>C

1 paper

NM_013382.7

p.L291V

c.871C>G