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

3 papers

NM_001040108.2

p.R93G

c.277C>G

Surrounding Variants

3 papers

NM_001040108.2

p.R93Q

c.278G>A

1 paper

NM_001040108.2

p.G94R

c.280G>C

1 paper

NM_001040108.2

p.G94R

c.280G>A

1 paper

NM_001040108.2

p.A96T

c.286G>A

1 paper

NM_001040108.2

p.F89C

c.266T>G

1 paper

NM_001040108.2

p.A96A

c.288C>T

1 paper

NM_001040108.2

p.L97*

c.290T>A

1 paper

NM_001040108.2

p.L97L

c.291G>A

1 paper

NM_001040108.2

p.L97delFs

c.289_290delAA

2 papers

NM_001040108.2

p.L84*

c.251T>A

1 paper

NM_001040108.2

p.D102N

c.304G>A

1 paper

NM_001040108.2

p.D83A

c.248A>C