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.A135delFs

c.405delA

Surrounding Variants

1 paper

NM_001040108.2

p.D136fs

c.406_407fs

1 paper

NM_001040108.2

p.A135_D136del2

c.403_407del6

1 paper

NM_001040108.2

p.E134G

c.401A>G

1 paper

NM_001040108.2

p.C133delFs

c.397delA

1 paper

NM_001040108.2

p.A132P

c.394G>C

4 papers

NM_001040108.2

p.A132T

c.394G>A

1 paper

NM_001040108.2

p.K131R

c.392A>G

1 paper

NM_001040108.2

p.A142S

c.424G>T

3 papers

NM_001040108.2

p.A142T

c.424G>A

1 paper

NM_001040108.2

p.A142V

c.425C>T

1 paper

NM_001040108.2

p.A129A

c.387C>T

1 paper

NM_001040108.2

p.K128insFs

c.383_384ins19