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

9 papers

NM_001040108.2

p.S817G

c.2449A>G

Surrounding Variants

1 paper

NM_001040108.2

p.S817R

c.2449A>C

1 paper

NM_001040108.2

p.S817R

c.2451T>G

1 paper

NM_001040108.2

p.S817R

c.2451T>A

1 paper

NM_001040108.2

p.S817del1

c.2449_2451delACT

1 paper

NM_001040108.2

p.S812_D813del2

c.2434_2438del6

1 paper

NM_001040108.2

p.K805_S812del8

c.2413_2435del24

1 paper

NM_001040108.2

p.A821A

c.2463A>G

3 papers

NM_001040108.2

p.H823Y

c.2467C>T

12 papers

NM_001040108.2

p.M809V

c.2425A>G

20 papers

NM_001040108.2

p.N826D

c.2476A>G

3 papers

NM_001040108.2

p.E828*

c.2482G>T

1 paper

NM_001040108.2

p.E828K

c.2482G>A