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.R369insFs

c.1106_1107insT

Surrounding Variants

5 papers

NM_013382.7

p.R369H

c.1106G>A

1 paper

NM_013382.7

p.Q370*

c.1108C>T

1 paper

NM_013382.7

p.Q372fs

c.1114_1115fs

2 papers

NM_013382.7

p.Q372_V373Splc

c.1116+1G>A

1 paper

NM_013382.7

p.Q372del1

c.1114_1116delCTG

1 paper

NM_013382.7

p.L355_E364delFs

c.1064_1091del28

2 papers

NM_013382.7

p.R359_H360insFs

c.1077_1078insG

1 paper

NM_013382.7

p.R359W

c.1075A>T

1 paper

NM_013382.7

p.H358_R359delins

c.1074_1075delinsAT

1 paper

NM_013382.7

p.H358Q

c.1074C>G

1 paper

NM_013382.7

p.H358Q

c.1074C>A

1 paper

NM_013382.7

p.H358Y

c.1072C>T