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.F120Y

c.359T>A

Surrounding Variants

1 paper

NM_001040108.2

p.F120C

c.359T>G

4 papers

NM_001040108.2

p.F120S

c.359T>C

1 paper

NM_001040108.2

p.T119I

c.356C>T

1 paper

NM_001040108.2

p.V121_K122ins1

c.363_364insACA

1 paper

NM_001040108.2

p.K122E

c.364A>G

1 paper

NM_001040108.2

p.K118K

c.354A>G

1 paper

NM_001040108.2

p.K118R

c.353A>G

1 paper

NM_001040108.2

p.V121_K122delFs

c.363_364delTC

1 paper

NM_001040108.2

p.F124ins1

c.371_372insACA

1 paper

NM_001040108.2

p.R115S

c.345G>T

1 paper

NM_001040108.2

p.Q125*

c.373C>T

1 paper

NM_001040108.2

p.R115R

c.343A>C