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.N544delFs

c.1631delT

Surrounding Variants

1 paper

NM_001040108.2

p.N544fs

c.1630_1631fs

1 paper

NM_001040108.2

p.N545S

c.1634A>G

1 paper

NM_001040108.2

p.K543K

c.1629A>G

1 paper

NM_001040108.2

p.R546*

c.1636A>T

6 papers

NM_001040108.2

p.R546I

c.1637G>T

1 paper

NM_001040108.2

p.R546_I547del2

c.1636_1640del6

1 paper

NM_001040108.2

p.I541V

c.1621A>G

3 papers

NM_001040108.2

p.P551S

c.1651C>T

1 paper

NM_001040108.2

p.G536A

c.1607G>C

1 paper

NM_001040108.2

p.R553I

c.1658G>T

1 paper

NM_001040108.2

p.K555_D556ins1

c.1665_1666insCTG

1 paper

NM_001040108.2

p.K555_D556ins2

c.1665_1666ins6