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.S753S

c.2259T>A

Surrounding Variants

1 paper

NM_001040108.2

p.S753A

c.2257T>G

1 paper

NM_001040108.2

p.E755D

c.2265G>T

1 paper

NM_001040108.2

p.E755D

c.2265G>C

1 paper

NM_001040108.2

p.S748fs

c.2242_2243fs

1 paper

NM_001040108.2

p.R759K

c.2276G>A

1 paper

NM_001040108.2

p.L747F

c.2241G>C

1 paper

NM_001040108.2

p.K763N

c.2289G>T

1 paper

NM_001040108.2

p.K763N

c.2289G>C

1 paper

NM_001040108.2

p.I740_V741delFs

c.2220_2223del4

20 papers

NM_001040108.2

p.V741F

c.2221G>T

1 paper

NM_001040108.2

p.V741I

c.2221G>A

1 paper

NM_001040108.2

p.K738_I740del3

c.2212_2219del9