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

6 papers

NM_001040108.2

p.D206fs

c.616_617fs

Surrounding Variants

1 paper

NM_001040108.2

p.D206H

c.616G>C

6 papers

NM_001040108.2

p.K205delFs

c.615delT

1 paper

NM_001040108.2

p.K205T

c.614A>C

1 paper

NM_001040108.2

p.V207I

c.619G>A

1 paper

NM_001040108.2

p.C208Y

c.623G>A

1 paper

NM_001040108.2

p.P202R

c.605C>G

1 paper

NM_001040108.2

p.R210*

c.628C>T

1 paper

NM_001040108.2

p.L201V

c.601C>G

1 paper

NM_001040108.2

p.Q200H

c.600G>T

1 paper

NM_001040108.2

p.Q200H

c.600G>C

1 paper

NM_001040108.2

p.V198insFs

c.592_593insT

1 paper

NM_001040108.2

p.M197I

c.591G>T