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.F201L

c.603C>A

Surrounding Variants

1 paper

NM_013382.7

p.F201L

c.603C>G

9 papers

NM_013382.7

p.F202V

c.604T>G

1 paper

NM_013382.7

p.F201L

c.601T>C

2 papers

NM_013382.7

p.I198N

c.593T>A

2 papers

NM_013382.7

p.M200_M204del0

c.598_612del15

1 paper

NM_013382.7

p.I203_A206delFs

c.607_616del10

1 paper

NM_013382.7

p.L208V

c.622C>G

1 paper

NM_013382.7

p.M210T

c.629T>C

1 paper

NM_013382.7

p.Q191E

c.571C>G

2 papers

NM_013382.7

p.L187F

c.559C>T

1 paper

NM_013382.7

p.C216W

c.648C>G

9 papers

NM_013382.7

p.C186Y

c.557G>A