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.L1052P

c.3155T>C

Surrounding Variants

1 paper

NM_001040108.2

p.A1051P

c.3151G>C

5 papers

NM_001040108.2

p.D1049N

c.3145G>A

1 paper

NM_001040108.2

p.V1056I

c.3166G>A

1 paper

NM_001040108.2

p.F1048C

c.3143T>G

1 paper

NM_001040108.2

p.Y1057fs

c.3169_3170fs

1 paper

NM_001040108.2

p.V1058F

c.3172G>T

1 paper

NM_001040108.2

p.Y1057delFs

c.3170_3171delAT

1 paper

NM_001040108.2

p.R1046W

c.3136C>T

1 paper

NM_001040108.2

p.T1039T

c.3117G>A

1 paper

NM_001040108.2

p.E1036*

c.3106G>T

1 paper

NM_001040108.2

p.E1035Q

c.3103G>C

1 paper

NM_001040108.2

p.P1070Q

c.3209C>A