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.E640A

c.1919A>C

Surrounding Variants

1 paper

NM_001040108.2

p.Q639*

c.1915C>T

1 paper

NM_001040108.2

p.T641T

c.1923A>G

1 paper

NM_001040108.2

p.F642V

c.1924T>G

1 paper

NM_001040108.2

p.F642L

c.1924T>C

1 paper

NM_001040108.2

p.F642L

c.1926T>G

1 paper

NM_001040108.2

p.F642L

c.1926T>A

2 papers

NM_001040108.2

p.A638S

c.1912G>T

1 paper

NM_001040108.2

p.A638T

c.1912G>A

11 papers

NM_001040108.2

p.R647C

c.1939C>T

1 paper

NM_001040108.2

p.R647G

c.1939C>G

1 paper

NM_001040108.2

p.H648N

c.1942C>A

1 paper

NM_001040108.2

p.N629fs

c.1885_1886fs