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.Q379*

c.1135C>T

Surrounding Variants

1 paper

NM_001040108.2

p.R381C

c.1141C>T

1 paper

NM_001040108.2

p.K380_R381delFs

c.1140_1143del4

1 paper

NM_001040108.2

p.L373_F374delFs

c.1119_1122del4

1 paper

NM_001040108.2

p.D385N

c.1153G>A

1 paper

NM_001040108.2

p.D385E

c.1155T>G

1 paper

NM_001040108.2

p.D385E

c.1155T>A

1 paper

NM_001040108.2

p.R387S

c.1161G>T

1 paper

NM_001040108.2

p.R387S

c.1161G>C

1 paper

NM_001040108.2

p.K380_N389del0

c.1140_1166del27

4 papers

NM_001040108.2

p.F390I

c.1168T>A

1 paper

NM_001040108.2

p.D368H

c.1102G>C

1 paper

NM_001040108.2

p.E367delFs

c.1100delT