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

Selected Variant

1 paper

NM_001145309.4

p.L60P

c.179T>C

Surrounding Variants

2 papers

NM_001145309.4

p.L65L

c.193T>C

3 papers

NM_001145308.5

p.R54Q

c.161G>A

5 papers

NM_001145308.5

p.R52W

c.154C>T

4 papers

NM_001145308.5

p.R70*

c.208C>T

1 paper

NM_001145309.4

p.D71E

c.213C>G

1 paper

NM_001145309.4

p.L40F

c.120G>T

2 papers

NM_001145308.5

p.E80D

c.240G>C

2 papers

NM_001145308.5

p.E80D

c.240G>T

2 papers

NM_001145308.5

p.R81W

c.241C>T

5 papers

NM_001145308.5

p.R81Q

c.242G>A

1 paper

NM_001145309.4

p.F83L

c.247T>C

1 paper

NM_001145309.4

p.F83L

c.249C>A