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.S464P

c.1390T>C

Surrounding Variants

2 papers

NM_001040108.2

p.S463R

c.1389C>G

2 papers

NM_001040108.2

p.S463R

c.1389C>A

2 papers

NM_001040108.2

p.S463R

c.1387A>C

1 paper

NM_001040108.2

p.S466*

c.1397C>G

1 paper

NM_001040108.2

p.S466*

c.1397C>A

1 paper

NM_001040108.2

p.E467K

c.1399G>A

1 paper

NM_001040108.2

p.K461*

c.1381A>T

1 paper

NM_001040108.2

p.S468S

c.1404A>T

1 paper

NM_001040108.2

p.K469N

c.1407G>T

1 paper

NM_001040108.2

p.K469N

c.1407G>C

1 paper

NM_001040108.2

p.M470T

c.1409T>C

1 paper

NM_001040108.2

p.P456A

c.1366C>G