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

2 papers

NM_001040108.2

p.S33N

c.98G>A

Surrounding Variants

1 paper

NM_001040108.2

p.S33C

c.97A>T

2 papers

NM_001040108.2

p.S33G

c.97A>G

1 paper

NM_001040108.2

p.I34T

c.101T>C

1 paper

NM_001040108.2

p.N32S

c.95A>G

1 paper

NM_001040108.2

p.N32D

c.94A>G

1 paper

NM_001040108.2

p.D35insFs

c.103dupG

1 paper

NM_001040108.2

p.A30A

c.90C>T

1 paper

NM_001040108.2

p.A30G

c.89C>G

1 paper

NM_001040108.2

p.A30S

c.88G>T

1 paper

NM_001040108.2

p.E37K

c.109G>A

2 papers

NM_001040108.2

p.E28*

c.82G>T

1 paper

NM_001040108.2

p.E27E

c.81G>A