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.L709P

c.2126T>C

Surrounding Variants

4 papers

NM_007171.4

p.R735C

c.2203C>T

NM_001077365.2

p.R713C

c.2137C>T

2 papers

NM_001077365.2

p.S705S

c.2115G>A

3 papers

NM_007171.4

p.S727fs

c.2179_2180fs

1 paper

NM_007171.4

p.S727fs

c.2179_2180fs

4 papers

NM_001077365.2

p.W714delFs

c.2141delG

NM_007171.4

p.W736delFs

c.2207delG

4 papers

NM_001077365.2

p.W714*

c.2141G>A

NM_007171.4

p.W736*

c.2207G>A

2 papers

NM_001077365.2

p.L704insFs

c.2110_2111insG

4 papers

NM_001077365.2

p.W714*

c.2142G>A

NM_007171.4

p.W736*

c.2208G>A

3 papers

NM_001077365.2

p.K715insFs

c.2143_2144insA

5 papers

NM_007171.4

p.S727delFs

c.2179_2180delTC

1 paper

NM_001077365.2

p.S703ins1

c.2107_2108insAGG

2 papers

NM_007171.4

p.D723fs

c.2167_2168fs