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.Q173*

c.517C>T

Surrounding Variants

1 paper

NM_001040108.2

p.R172G

c.514A>G

1 paper

NM_001040108.2

p.R174I

c.521G>T

1 paper

NM_001040108.2

p.E176K

c.526G>A

1 paper

NM_001040108.2

p.F168L

c.504T>G

1 paper

NM_001040108.2

p.F168L

c.504T>A

1 paper

NM_001040108.2

p.F168S

c.503T>C

1 paper

NM_001040108.2

p.F168L

c.502T>C

1 paper

NM_001040108.2

p.L180F

c.538C>T

1 paper

NM_001040108.2

p.R165S

c.495A>T

1 paper

NM_001040108.2

p.R165*

c.493A>T

1 paper

NM_001040108.2

p.P183L

c.548C>T

1 paper

NM_001040108.2

p.H182_P183delFs

c.546_547delGG