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

2 papers

NM_001077365.2

p.L171R

c.512T>G

Surrounding Variants

3 papers

NM_001077365.2

p.F173_N175delins

c.517_523delinsG

1 paper

NM_001077365.2

p.L164L

c.490C>T

2 papers

NM_001077365.2

p.S180Splc

c.539+1G>T

1 paper

NM_001077365.2

p.F162fs

c.484_485fs

1 paper

NM_001077365.2

p.L155S

c.464T>C

2 papers

NM_001077365.2

p.T148N

c.443C>A

5 papers

NM_001077365.2

p.N144D

c.430A>G

1 paper

NM_001077365.2

p.N144fs

c.430_431fs

1 paper

NM_001077365.2

p.E143Splc

c.428-2A>G

3 papers

NM_001077365.2

p.P181delFs

c.542delC

1 paper

NM_001077365.2

p.P181fs

c.541_542fs

2 papers

NM_001077365.2

p.W186*

c.557G>A