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.F832L

c.2496C>A

Surrounding Variants

1 paper

NM_001040108.2

p.F832L

c.2496C>G

1 paper

NM_001040108.2

p.F832L

c.2494T>C

1 paper

NM_001040108.2

p.K829_P831delFs

c.2487_2491del5

1 paper

NM_001040108.2

p.F830L

c.2490T>G

1 paper

NM_001040108.2

p.F830L

c.2490T>A

1 paper

NM_001040108.2

p.F830L

c.2488T>C

1 paper

NM_001040108.2

p.K829fs

c.2485_2486fs

3 papers

NM_001040108.2

p.E828D

c.2484G>T

3 papers

NM_001040108.2

p.E828D

c.2484G>C

1 paper

NM_001040108.2

p.E836E

c.2508A>G

3 papers

NM_001040108.2

p.E828*

c.2482G>T

1 paper

NM_001040108.2

p.E828K

c.2482G>A