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.F354V

c.1060T>G

Surrounding Variants

1 paper

NM_001040108.2

p.L353S

c.1058T>C

1 paper

NM_001040108.2

p.K352Q

c.1054A>C

1 paper

NM_001040108.2

p.E351D

c.1053A>T

1 paper

NM_001040108.2

p.E351D

c.1053A>C

1 paper

NM_001040108.2

p.Q350P

c.1049A>C

1 paper

NM_001040108.2

p.G359insFs

c.1076_1077insT

1 paper

NM_001040108.2

p.M346R

c.1037T>G

1 paper

NM_001040108.2

p.I362I

c.1086T>C

1 paper

NM_001040108.2

p.I362delFs

c.1085_1086delAA

1 paper

NM_001040108.2

p.K363R

c.1088A>G

1 paper

NM_001040108.2

p.V344M

c.1030G>A

1 paper

NM_001040108.2

p.E342K

c.1024G>A