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

2 papers

NM_001145309.4

p.W105R

c.313T>C

Surrounding Variants

2 papers

NM_001145309.4

p.W105R

c.313T>A

3 papers

NM_001145308.5

p.E110K

c.328G>A

2 papers

NM_001145308.5

p.Y111*

c.333C>A

2 papers

NM_001145308.5

p.Y111*

c.333C>G

1 paper

NM_001145309.4

p.G96_C109del14

c.286_326del42

3 papers

NM_001145309.4

p.G120Splc

c.358+4A>C

1 paper

NM_001145309.4

p.F83L

c.249C>A

1 paper

NM_001145309.4

p.F83L

c.249C>G

1 paper

NM_001145309.4

p.F83L

c.247T>C

5 papers

NM_001145308.5

p.R81Q

c.242G>A

2 papers

NM_001145308.5

p.R81W

c.241C>T

2 papers

NM_001145308.5

p.E80D

c.240G>C