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.S605P

c.1813T>C

Surrounding Variants

1 paper

NM_001040108.2

p.K602delFs

c.1806delT

1 paper

NM_001040108.2

p.G607V

c.1820G>T

1 paper

NM_001040108.2

p.K602fs

c.1804_1805fs

1 paper

NM_001040108.2

p.K602R

c.1805A>G

2 papers

NM_001040108.2

p.R600Q

c.1799G>A

2 papers

NM_001040108.2

p.R600*

c.1798C>T

1 paper

NM_001040108.2

p.Y598delFs

c.1794delA

1 paper

NM_001040108.2

p.H611insFs

c.1831_1832insA

1 paper

NM_001040108.2

p.Y598*

c.1794T>G

1 paper

NM_001040108.2

p.Y598*

c.1794T>A

1 paper

NM_001040108.2

p.H611insFs

c.1833dupT

2 papers

NM_001040108.2

p.S597C

c.1789A>T