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

1 paper

NM_001077365.2

p.G465R

c.1393G>A

Surrounding Variants

1 paper

NM_001077365.2

p.G465R

c.1393G>C

3 papers

NM_007171.4

p.W486S

c.1457G>C

NM_001077365.2

p.W464S

c.1391G>C

1 paper

NM_007171.4

p.W486fs

c.1456_1457fs

1 paper

NM_007171.4

p.W486insFs

c.1456dupT

1 paper

NM_001077365.2

p.R467W

c.1399C>T

1 paper

NM_001077365.2

p.P462S

c.1384C>T

1 paper

NM_001077365.2

p.L461L

c.1383C>G

1 paper

NM_001077365.2

p.L461F

c.1381C>T

1 paper

NM_001077365.2

p.G458delFs

c.1374delG

2 papers

NM_007171.4

p.G495R

c.1483G>A

NM_001136114.2

p.G356R

c.1066G>A

2 papers

NM_007171.4

p.G495R

c.1483G>C

NM_001136114.2

p.G356R

c.1066G>C

1 paper

NM_001077365.2

p.G479delFs

c.1436delG