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.N434delFs

c.1301delT

Surrounding Variants

2 papers

NM_001040108.2

p.N434fs

c.1300_1301fs

1 paper

NM_001040108.2

p.N434fs

c.1300_1301fs

1 paper

NM_001040108.2

p.R432I

c.1295G>T

1 paper

NM_001040108.2

p.R432insFs

c.1295_1296insA

1 paper

NM_001040108.2

p.R432K

c.1295G>A

1 paper

NM_001040108.2

p.L440fs

c.1318_1319fs

1 paper

NM_001040108.2

p.L440delFs

c.1319delA

1 paper

NM_001040108.2

p.S428S

c.1284A>G

1 paper

NM_001040108.2

p.A410_R426del0

c.1230_1277del48

1 paper

NM_001040108.2

p.E444Q

c.1330G>C

1 paper

NM_001040108.2

p.Q423Q

c.1269G>A

1 paper

NM_001040108.2

p.Q423E

c.1267C>G