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.D267G

c.800A>G

Surrounding Variants

1 paper

NM_013382.7

p.D267N

c.799G>A

2 papers

NM_013382.7

p.G266R

c.796G>C

7 papers

NM_013382.7

p.G266R

c.796G>A

1 paper

NM_013382.7

p.L268L

c.804C>G

1 paper

NM_013382.7

p.S271L

c.812C>T

6 papers

NM_013382.7

p.W262*

c.786G>A

2 papers

NM_013382.7

p.W262*

c.785G>A

4 papers

NM_013382.7

p.L272_V273Splc

c.816+1G>A

2 papers

NM_013382.7

p.G254E

c.761G>A

1 paper

NM_013382.7

p.G246D

c.737G>A

10 papers

NM_013382.7

p.G238V

c.713G>T

1 paper

NM_013382.7

p.L236R

c.707T>G