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.H611insFs

c.1831_1832insA

Surrounding Variants

1 paper

NM_001040108.2

p.H611insFs

c.1833dupT

1 paper

NM_001040108.2

p.G607V

c.1820G>T

1 paper

NM_001040108.2

p.E616E

c.1848A>G

1 paper

NM_001040108.2

p.S605P

c.1813T>C

2 papers

NM_001040108.2

p.T618fs

c.1852_1853fs

1 paper

NM_001040108.2

p.T618A

c.1852A>G

2 papers

NM_001040108.2

p.T618delFs

c.1852delT

1 paper

NM_001040108.2

p.K602delFs

c.1806delT

1 paper

NM_001040108.2

p.K619I

c.1856A>T

1 paper

NM_001040108.2

p.K619T

c.1856A>C

1 paper

NM_001040108.2

p.K602fs

c.1804_1805fs

1 paper

NM_001040108.2

p.T618del1

c.1852_1854delAGT