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.N725H

c.2173A>C

Surrounding Variants

1 paper

NM_001040108.2

p.N725S

c.2174A>G

1 paper

NM_001040108.2

p.Y720_V723del4

c.2158_2168del12

1 paper

NM_001040108.2

p.D726G

c.2177A>G

2 papers

NM_001040108.2

p.V723I

c.2167G>A

1 paper

NM_001040108.2

p.S727N

c.2180G>A

1 paper

NM_001040108.2

p.R728delFs

c.2184delC

4 papers

NM_001040108.2

p.Y720C

c.2159A>G

1 paper

NM_001040108.2

p.T730fs

c.2188_2189fs

1 paper

NM_001040108.2

p.D731Y

c.2191G>T

4 papers

NM_001040108.2

p.P718S

c.2152C>T

1 paper

NM_001040108.2

p.K732Q

c.2194A>C

1 paper

NM_001040108.2

p.K732T

c.2195A>C