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.S946S

c.2838C>A

Surrounding Variants

3 papers

NM_001040108.2

p.S946F

c.2837C>T

1 paper

NM_001040108.2

p.F947S

c.2840T>C

1 paper

NM_001040108.2

p.K949R

c.2846A>G

1 paper

NM_001040108.2

p.K949T

c.2846A>C

1 paper

NM_001040108.2

p.Q943H

c.2829G>T

1 paper

NM_001040108.2

p.Q943H

c.2829G>C

1 paper

NM_001040108.2

p.N945_N948del4

c.2833_2843del12

14 papers

NM_001040108.2

p.T942I

c.2825C>T

1 paper

NM_001040108.2

p.S938P

c.2812T>C

1 paper

NM_001040108.2

p.S957G

c.2869A>G

2 papers

NM_001040108.2

p.G933C

c.2797G>T

1 paper

NM_001040108.2

p.N932Y

c.2794A>T