Varaico: Literature-Extracted Genetic Variants

LCMT2

48 papers

RefSeq Summary

The protein encoded by this intronless gene belongs to the highly variable methyltransferase superfamily. This gene is the inferred homolog of the Saccharomyces cerevisiae carboxymethyltransferase gen...

Pfam Domains

LCMaa 12–207UCSCLeucine carboxyl methyltransferase

Kelch_KLHDC2_KLHL20_DRC7aa 342–551UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Kelch_KLHDC2_KLHL20_DRC7aa 482–683UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

leucine carboxyl methyltransferase 2

HGNC Alias Symbols

KIAA0547; MGC9534; TYW4; PPM2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014793.5

p.A175V

c.524C>T

Surrounding Variants

1 paper

NM_014793.5

p.A147A

c.441G>T

2 papers

NM_014793.5

p.R141S

c.423G>T

2 papers

NM_014793.5

p.R141S

c.423G>C

1 paper

NM_014793.5

p.R141K

c.422G>A

1 paper

NM_014793.5

p.L135*

c.404T>G

1 paper

NM_014793.5

p.L135*

c.404T>A

1 paper

NM_014793.5

p.H243fs

c.727_728fs

1 paper

NM_014793.5

p.R257H

c.770G>A

1 paper

NM_014793.5

p.D93G

c.278A>G

1 paper

NM_014793.5

p.W263*

c.788G>A

1 paper

NM_014793.5

p.W263*

c.789G>A

1 paper

NM_014793.5

p.R82C

c.244C>T