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.N975S

c.2924A>G

Surrounding Variants

1 paper

NM_001040108.2

p.N975D

c.2923A>G

1 paper

NM_001040108.2

p.V979F

c.2935G>T

5 papers

NM_001040108.2

p.V971I

c.2911G>A

1 paper

NM_001040108.2

p.T980T

c.2940C>T

4 papers

NM_001040108.2

p.G981S

c.2941G>A

16 papers

NM_001040108.2

p.S966P

c.2896T>C

1 paper

NM_001040108.2

p.D983_V986del4

c.2947_2957del12

1 paper

NM_001040108.2

p.I988M

c.2964C>G

1 paper

NM_001040108.2

p.S957G

c.2869A>G

1 paper

NM_001040108.2

p.N945_N948del4

c.2833_2843del12

1 paper

NM_001040108.2

p.K949R

c.2846A>G

1 paper

NM_001040108.2

p.K949T

c.2846A>C