Varaico: Literature-Extracted Genetic Variants

MLH3

560 papers

RefSeq Summary

This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombinat...

Pfam Domains

HATPase_caa 18–149UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

DNA_mis_repairaa 211–276UCSCDNA mismatch repair protein, C-terminal domain

MutL_Caa 1213–1372UCSCMutL C terminal dimerisation domain

Gene Aliases

HGNC Name

mutL homolog 3

HGNC Previous Names

mutL (E. coli) homolog 3; mutL homolog 3 (E. coli)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001040108.2

p.G195V

c.584G>T

Surrounding Variants

1 paper

NM_001040108.2

p.G195C

c.583G>T

1 paper

NM_001040108.2

p.V193V

c.579T>C

1 paper

NM_001040108.2

p.M197I

c.591G>T

1 paper

NM_001040108.2

p.M197I

c.591G>C

1 paper

NM_001040108.2

p.M197I

c.591G>A

1 paper

NM_001040108.2

p.V198insFs

c.592_593insT

1 paper

NM_001040108.2

p.D192A

c.575A>C

1 paper

NM_001040108.2

p.S184_R190del7

c.550_569del21

1 paper

NM_001040108.2

p.R190R

c.570A>G

1 paper

NM_001040108.2

p.Q200H

c.600G>T

1 paper

NM_001040108.2

p.Q200H

c.600G>C

1 paper

NM_001040108.2

p.R190*

c.568A>T