Varaico: Literature-Extracted Genetic Variants

POMT1

242 papers

RefSeq Summary

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the en...

Pfam Domains

PMTaa 1–115UCSCDolichyl-phosphate-mannose-protein mannosyltransferase

PMTaa 20–289UCSCDolichyl-phosphate-mannose-protein mannosyltransferase

MIRaa 332–500UCSCMIR domain

PMT_4TMCaa 542–740UCSCC-terminal four TMM region of protein-O-mannosyltransferase

Gene Aliases

HGNC Name

protein O-mannosyltransferase 1

HGNC Alias Symbol

LGMD2K

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

34 papers

NM_001077365.2

p.A200P

c.598G>C

Surrounding Variants

3 papers

NM_001077365.2

p.G202Splc

c.605+1G>A

1 paper

NM_001077365.2

p.C197delins

c.589_590delinsTG

1 paper

NM_001077365.2

p.A196S

c.586G>T

1 paper

NM_001077365.2

p.V195fs

c.583_584fs

2 papers

NM_001077365.2

p.T193_G194delFs

c.579_580delAG

1 paper

NM_001077365.2

p.T193fs

c.577_578fs

1 paper

NM_001077365.2

p.L192fs

c.574_575fs

1 paper

NM_001077365.2

p.L192delFs

c.574_575delCT

1 paper

NM_001077365.2

p.T193_C199delFs

c.577_596del20

1 paper

NM_001077365.2

p.W187C

c.561G>C

1 paper

NM_001077365.2

p.W187C

c.561G>T

1 paper

NM_001077365.2

p.W186*

c.558G>A