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.S714P

c.2140T>C

Surrounding Variants

1 paper

NM_001040108.2

p.S714F

c.2141C>T

1 paper

NM_001040108.2

p.T713delFs

c.2138delG

1 paper

NM_001040108.2

p.T713fs

c.2137_2138fs

1 paper

NM_001040108.2

p.P715insFs

c.2145dupC

1 paper

NM_001040108.2

p.S716fs

c.2146_2147fs

4 papers

NM_001040108.2

p.P718S

c.2152C>T

1 paper

NM_001040108.2

p.I709T

c.2126T>C

1 paper

NM_001040108.2

p.D707delFs

c.2119_2120delTC

4 papers

NM_001040108.2

p.Y720C

c.2159A>G

1 paper

NM_001040108.2

p.D707fs

c.2119_2120fs

1 paper

NM_001040108.2

p.D707Y

c.2119G>T

1 paper

NM_001040108.2

p.Q705_T706delFs

c.2115_2118del4