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

1–12 of 321 variants

34 papers

NM_001077365.2

p.A200P

c.598G>C

14 papers

NM_001077365.2

p.G76R

c.226G>C

13 papers

NM_001077365.2

p.G65R

c.193G>A

13 papers

NM_001077365.2

p.G76R

c.226G>A

12 papers

NM_001077365.2

p.G65R

c.193G>C

8 papers

NM_001077365.2

p.E94Splc

c.280+1G>T

8 papers

NM_001077365.2

p.L421del1

c.1261_1262delCTC

8 papers

NM_001077365.2

p.A647T

c.1939G>A

6 papers

NM_001077365.2

p.W486S

c.1457G>C

5 papers

NM_001077365.2

p.N144D

c.430A>G

5 papers

NM_007171.4

p.S727delFs

c.2179_2180delTC

5 papers

NM_001077365.2

p.R723insFs

c.2167_2168insG