Varaico: Literature-Extracted Genetic Variants

LRTOMT

18 papers

RefSeq Summary

This locus represents naturally occurring readthrough transcription between the neighboring LRRC51 (leucine-rich repeat containing 51) and TOMT (transmembrane O-methyltransferase) genes on chromosome ...

Pfam Domains

Methyltransf_3aa 96–252UCSCO-methyltransferase

Gene Aliases

HGNC Name

leucine rich transmembrane and O-methyltransferase domain containing

HGNC Previous Symbol

DFNB63

Papers

RefSeq ID

Protein change

DNA change

1–12 of 59 variants

4 papers

NM_001145308.5

p.R52W

c.154C>T

3 papers

NM_001145308.5

p.R81Q

c.242G>A

2 papers

NM_001145309.4

p.M34I

c.102G>A

2 papers

NM_001145309.4

p.M34I

c.102G>C

2 papers

NM_001145309.4

p.M34I

c.102G>T

2 papers

NM_001145309.4

p.P36delFs

c.107delC

2 papers

NM_001145309.4

p.R54Q

c.161G>A

2 papers

NM_001145309.4

p.L65L

c.193T>C

2 papers

NM_001145308.5

p.R70*

c.208C>T

2 papers

NM_001145309.4

p.R70*

c.208C>T

2 papers

NM_001145309.4

p.R81Q

c.242G>A

2 papers

NM_001145308.5

p.E110K

c.328G>A