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

3 papers

NM_001040108.2

p.I239S

c.716T>G

Surrounding Variants

1 paper

NM_001040108.2

p.S240N

c.719G>A

5 papers

NM_001040108.2

p.Y238S

c.713A>C

1 paper

NM_001040108.2

p.S241delFs

c.722delG

1 paper

NM_001040108.2

p.E242*

c.724G>T

1 paper

NM_001040108.2

p.S240_S241delFs

c.720_723del4

1 paper

NM_001040108.2

p.E234E

c.702G>A

1 paper

NM_001040108.2

p.N246N

c.738C>T

1 paper

NM_001040108.2

p.N246fs

c.736_737fs

1 paper

NM_001040108.2

p.N246delFs

c.738delG

1 paper

NM_001040108.2

p.K247N

c.741G>T

1 paper

NM_001040108.2

p.K247N

c.741G>C

1 paper

NM_001040108.2

p.N246_K247del1

c.738_740delTTG