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.E684A

c.2051A>C

Surrounding Variants

1 paper

NM_001040108.2

p.L683_E684ins1

c.2049_2050insAGT

1 paper

NM_001040108.2

p.N685S

c.2054A>G

1 paper

NM_001040108.2

p.G682E

c.2045G>A

1 paper

NM_001040108.2

p.P687S

c.2059C>T

2 papers

NM_001040108.2

p.I679M

c.2037A>G

1 paper

NM_001040108.2

p.T692A

c.2074A>G

2 papers

NM_001040108.2

p.R676K

c.2027G>A

1 paper

NM_001040108.2

p.M693T

c.2078T>C

7 papers

NM_001040108.2

p.N674fs

c.2020_2021fs

3 papers

NM_001040108.2

p.N674insFs

c.2021dupA

1 paper

NM_001040108.2

p.N674K

c.2022T>G

1 paper

NM_001040108.2

p.N674K

c.2022T>A