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.Q341*

c.1021C>T

Surrounding Variants

1 paper

NM_001040108.2

p.E342K

c.1024G>A

1 paper

NM_001040108.2

p.I340V

c.1018A>G

1 paper

NM_001040108.2

p.V344M

c.1030G>A

1 paper

NM_001040108.2

p.M346R

c.1037T>G

1 paper

NM_001040108.2

p.T335S

c.1004C>G

1 paper

NM_001040108.2

p.L327_W333delFs

c.980_999del20

1 paper

NM_001040108.2

p.Q350P

c.1049A>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.K352Q

c.1054A>C

1 paper

NM_001040108.2

p.I328_E329delFs

c.983_986del4

1 paper

NM_001040108.2

p.E329A

c.986A>C