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

1–12 of 869 variants

55 papers

NM_001040108.2

p.P844L

c.2531C>T

20 papers

NM_001040108.2

p.V741F

c.2221G>T

20 papers

NM_001040108.2

p.N826D

c.2476A>G

16 papers

NM_001040108.2

p.S966P

c.2896T>C

16 papers

NM_001040108.2

p.S1188*

c.3563C>G

14 papers

NM_001040108.2

p.T942I

c.2825C>T

14 papers

NM_001040108.2

p.S1188*

c.3563C>A

13 papers

NM_001040108.2

p.E624Q

c.1870G>C

12 papers

NM_001040108.2

p.K231Q

c.691A>C

12 papers

NM_001040108.2

p.K585delFs

c.1755delT

12 papers

NM_001040108.2

p.M809V

c.2425A>G

11 papers

NM_001040108.2

p.K585insFs

c.1755dupA