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.Q191E

c.571C>G

Surrounding Variants

2 papers

NM_013382.7

p.L187F

c.559C>T

9 papers

NM_013382.7

p.C186Y

c.557G>A

1 paper

NM_013382.7

p.G185R

c.553G>C

1 paper

NM_013382.7

p.G185R

c.553G>A

15 papers

NM_013382.7

p.T184M

c.551C>T

2 papers

NM_013382.7

p.T184delFs

c.550delT

1 paper

NM_013382.7

p.T184fs

c.550_551fs

2 papers

NM_013382.7

p.I198N

c.593T>A

1 paper

NM_013382.7

p.F201L

c.601T>C

1 paper

NM_013382.7

p.F201L

c.603C>G

1 paper

NM_013382.7

p.F201L

c.603C>A

9 papers

NM_013382.7

p.F202V

c.604T>G