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.K738_I740del3

c.2212_2219del9

Surrounding Variants

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.I740_V741delFs

c.2220_2223del4

1 paper

NM_001040108.2

p.G735C

c.2203G>T

1 paper

NM_001040108.2

p.L747F

c.2241G>C

1 paper

NM_001040108.2

p.S748fs

c.2242_2243fs

1 paper

NM_001040108.2

p.K732T

c.2195A>C

1 paper

NM_001040108.2

p.K732Q

c.2194A>C

1 paper

NM_001040108.2

p.D731Y

c.2191G>T

1 paper

NM_001040108.2

p.T730fs

c.2188_2189fs

1 paper

NM_001040108.2

p.S753A

c.2257T>G

1 paper

NM_001040108.2

p.R728delFs

c.2184delC