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.S451delFs

c.1351delT

Surrounding Variants

1 paper

NM_001040108.2

p.S451Fs

c.1352delinsACFs

2 papers

NM_001040108.2

p.S451N

c.1352G>A

1 paper

NM_001040108.2

p.H450R

c.1349A>G

2 papers

NM_001040108.2

p.M453T

c.1358T>C

1 paper

NM_001040108.2

p.T454_E455insC

c.1360_1364ins3

2 papers

NM_001040108.2

p.P448L

c.1343C>T

1 paper

NM_001040108.2

p.E455fs

c.1363_1364fs

1 paper

NM_001040108.2

p.P456A

c.1366C>G

1 paper

NM_001040108.2

p.E444Q

c.1330G>C

1 paper

NM_001040108.2

p.K461*

c.1381A>T

1 paper

NM_001040108.2

p.L440fs

c.1318_1319fs

1 paper

NM_001040108.2

p.L440delFs

c.1319delA