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.E898*

c.2692G>T

Surrounding Variants

1 paper

NM_001040108.2

p.N897N

c.2691T>C

1 paper

NM_001040108.2

p.N897H

c.2689A>C

1 paper

NM_001040108.2

p.R895H

c.2684G>A

1 paper

NM_001040108.2

p.N901S

c.2702A>G

1 paper

NM_001040108.2

p.D903H

c.2707G>C

1 paper

NM_001040108.2

p.M892V

c.2674A>G

2 papers

NM_001040108.2

p.S904Y

c.2711C>A

1 paper

NM_001040108.2

p.S904S

c.2712C>T

1 paper

NM_001040108.2

p.K907I

c.2720A>T

1 paper

NM_001040108.2

p.E886D

c.2658A>T

1 paper

NM_001040108.2

p.E886D

c.2658A>C

1 paper

NM_001040108.2

p.E886K

c.2656G>A