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.C590*

c.1770T>A

Surrounding Variants

1 paper

NM_001040108.2

p.R592_R593insT

c.1774_1778ins3

1 paper

NM_001040108.2

p.R593fs

c.1777_1778fs

1 paper

NM_001040108.2

p.R593delFs

c.1778delC

8 papers

NM_001040108.2

p.E586fs

c.1756_1757fs

1 paper

NM_001040108.2

p.V595I

c.1783G>A

1 paper

NM_001040108.2

p.E586*

c.1756G>T

11 papers

NM_001040108.2

p.K585insFs

c.1755dupA

12 papers

NM_001040108.2

p.K585delFs

c.1755delT

10 papers

NM_001040108.2

p.E586fs

c.1756_1757fs

3 papers

NM_001040108.2

p.K585fs

c.1753_1754fs

2 papers

NM_001040108.2

p.S597C

c.1789A>T

1 paper

NM_001040108.2

p.S597G

c.1789A>G