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.G70R

c.208G>A

Surrounding Variants

1 paper

NM_001040108.2

p.G70R

c.208G>C

1 paper

NM_001040108.2

p.E67_V69del0

c.199_207del9

1 paper

NM_001040108.2

p.N71S

c.212A>G

1 paper

NM_001040108.2

p.D65_N71delFs

c.195_211del17

1 paper

NM_001040108.2

p.R72P

c.215G>C

2 papers

NM_001040108.2

p.F74L

c.220T>C

1 paper

NM_001040108.2

p.D65D

c.195T>C

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

1 paper

NM_001040108.2

p.D65H

c.193G>C

1 paper

NM_001040108.2

p.T75I

c.224C>T