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

13 papers

NM_001040108.2

p.E624Q

c.1870G>C

Surrounding Variants

1 paper

NM_001040108.2

p.E624K

c.1870G>A

1 paper

NM_001040108.2

p.E624D

c.1872A>T

1 paper

NM_001040108.2

p.E624D

c.1872A>C

1 paper

NM_001040108.2

p.E624_H625insFs

c.1872_1873insA

1 paper

NM_001040108.2

p.E622D

c.1866A>T

1 paper

NM_001040108.2

p.E622D

c.1866A>C

1 paper

NM_001040108.2

p.S626*

c.1877C>G

1 paper

NM_001040108.2

p.S626*

c.1877C>A

1 paper

NM_001040108.2

p.S626S

c.1878A>G

2 papers

NM_001040108.2

p.F627L

c.1879T>C

2 papers

NM_001040108.2

p.F627L

c.1881T>G

2 papers

NM_001040108.2

p.F627L

c.1881T>A