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

2 papers

NM_001040108.2

p.S80L

c.239C>T

Surrounding Variants

1 paper

NM_001040108.2

p.K77N

c.231A>T

1 paper

NM_001040108.2

p.K77R

c.230A>G

1 paper

NM_001040108.2

p.D83A

c.248A>C

1 paper

NM_001040108.2

p.K77*

c.229A>T

2 papers

NM_001040108.2

p.L84*

c.251T>A

1 paper

NM_001040108.2

p.T75I

c.224C>T

1 paper

NM_001040108.2

p.F74L

c.222C>G

1 paper

NM_001040108.2

p.F74L

c.222C>A

1 paper

NM_001040108.2

p.F74delFs

c.221delA

2 papers

NM_001040108.2

p.F74L

c.220T>C

1 paper

NM_001040108.2

p.R72P

c.215G>C

1 paper

NM_001040108.2

p.F89C

c.266T>G