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.K585delFs

c.1755delT

Surrounding Variants

1 paper

NM_001040108.2

p.E586*

c.1756G>T

11 papers

NM_001040108.2

p.K585insFs

c.1755dupA

10 papers

NM_001040108.2

p.E586fs

c.1756_1757fs

3 papers

NM_001040108.2

p.K585fs

c.1753_1754fs

8 papers

NM_001040108.2

p.E586fs

c.1756_1757fs

1 paper

NM_001040108.2

p.K584Q

c.1750A>C

1 paper

NM_001040108.2

p.E582insFs

c.1746dupG

1 paper

NM_001040108.2

p.K583fs

c.1747_1748fs

1 paper

NM_001040108.2

p.E582D

c.1746G>T

1 paper

NM_001040108.2

p.E582D

c.1746G>C

1 paper

NM_001040108.2

p.E582Q

c.1744G>C

2 papers

NM_001040108.2

p.C590*

c.1770T>A