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.V146V

c.438A>G

Surrounding Variants

1 paper

NM_001040108.2

p.V146I

c.436G>A

1 paper

NM_001040108.2

p.T147T

c.441A>T

1 paper

NM_001040108.2

p.V148V

c.444G>C

1 paper

NM_001040108.2

p.T144fs

c.430_431fs

1 paper

NM_001040108.2

p.G143insFs

c.429dupG

1 paper

NM_001040108.2

p.T144_T145ins5

c.430_434ins15

1 paper

NM_001040108.2

p.Y149delFs

c.447delA

1 paper

NM_001040108.2

p.A142V

c.425C>T

1 paper

NM_001040108.2

p.A142S

c.424G>T

3 papers

NM_001040108.2

p.A142T

c.424G>A

1 paper

NM_001040108.2

p.F152insFs

c.454_455insC

1 paper

NM_001040108.2

p.Y153C

c.458A>G