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.T930delFs

c.2789_2790delTG

Surrounding Variants

1 paper

NM_001040108.2

p.T930fs

c.2788_2789fs

1 paper

NM_001040108.2

p.E931fs

c.2791_2792fs

1 paper

NM_001040108.2

p.T930insFs

c.2788dupA

1 paper

NM_001040108.2

p.T930delFs

c.2788delT

1 paper

NM_001040108.2

p.N932Y

c.2794A>T

2 papers

NM_001040108.2

p.T930fs

c.2788_2789fs

2 papers

NM_001040108.2

p.G933C

c.2797G>T

1 paper

NM_001040108.2

p.H927Q

c.2781T>G

1 paper

NM_001040108.2

p.H927Q

c.2781T>A

1 paper

NM_001040108.2

p.H927L

c.2780A>T

1 paper

NM_001040108.2

p.H927N

c.2779C>A

1 paper

NM_001040108.2

p.S938P

c.2812T>C