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

3 papers

NM_001077365.2

p.F59C

c.176T>G

Surrounding Variants

2 papers

NM_001077365.2

p.F60del1

c.178_179delTTC

1 paper

NM_001077365.2

p.Q57*

c.169C>T

1 paper

NM_001077365.2

p.Y54N

c.160T>A

13 papers

NM_001077365.2

p.G65R

c.193G>A

12 papers

NM_001077365.2

p.G65R

c.193G>C

1 paper

NM_001077365.2

p.Y54del1

c.160_161delTAC

4 papers

NM_001077365.2

p.P66L

c.197C>T

1 paper

NM_001077365.2

p.P67Q

c.200C>A

2 papers

NM_001077365.2

p.Q49fs

c.145_146fs

1 paper

NM_001077365.2

p.M71V

c.211A>G

2 papers

NM_001077365.2

p.E44D

c.132A>C

1 paper

NM_001077365.2

p.E44D

c.132A>T