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

12 papers

NM_001040108.2

p.K231Q

c.691A>C

Surrounding Variants

1 paper

NM_001040108.2

p.F228S

c.683T>C

1 paper

NM_001040108.2

p.E234E

c.702G>A

1 paper

NM_001040108.2

p.R224T

c.671G>C

5 papers

NM_001040108.2

p.Y238S

c.713A>C

3 papers

NM_001040108.2

p.I239S

c.716T>G

1 paper

NM_001040108.2

p.K222N

c.666G>T

1 paper

NM_001040108.2

p.K222N

c.666G>C

3 papers

NM_001040108.2

p.K222K

c.666G>A

1 paper

NM_001040108.2

p.K222R

c.665A>G

1 paper

NM_001040108.2

p.K222E

c.664A>G

1 paper

NM_001040108.2

p.S240N

c.719G>A

1 paper

NM_001040108.2

p.S241delFs

c.722delG