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.M851I

c.2553G>A

Surrounding Variants

1 paper

NM_001040108.2

p.M851I

c.2553G>T

1 paper

NM_001040108.2

p.M851I

c.2553G>C

1 paper

NM_001040108.2

p.K854E

c.2560A>G

1 paper

NM_001040108.2

p.K854_E855insTG

c.2560_2564ins6

1 paper

NM_001040108.2

p.K854M

c.2561A>T

1 paper

NM_001040108.2

p.E855V

c.2564A>T

1 paper

NM_001040108.2

p.E855G

c.2564A>G

1 paper

NM_001040108.2

p.E855A

c.2564A>C

1 paper

NM_001040108.2

p.K854_E855delFs

c.2562_2563delCC

1 paper

NM_001040108.2

p.S857F

c.2570C>T

10 papers

NM_001040108.2

p.S845G

c.2533A>G

1 paper

NM_001040108.2

p.S845insFs

c.2533_2534insG