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.E773D

c.2319G>C

Surrounding Variants

1 paper

NM_001040108.2

p.E773D

c.2319G>T

1 paper

NM_001040108.2

p.E774D

c.2322A>T

1 paper

NM_001040108.2

p.E774D

c.2322A>C

1 paper

NM_001040108.2

p.V772A

c.2315T>C

1 paper

NM_001040108.2

p.L768_D769delFs

c.2303_2306del4

1 paper

NM_001040108.2

p.L768insFs

c.2303dupT

1 paper

NM_001040108.2

p.L768V

c.2302C>G

1 paper

NM_001040108.2

p.T780T

c.2340C>T

1 paper

NM_001040108.2

p.L782L

c.2346C>T

1 paper

NM_001040108.2

p.K763N

c.2289G>T

1 paper

NM_001040108.2

p.K763N

c.2289G>C

2 papers

NM_001040108.2

p.V786I

c.2356G>A