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.V1087insFs

c.3261dupG

Surrounding Variants

1 paper

NM_001040108.2

p.D1088V

c.3263A>T

1 paper

NM_001040108.2

p.V1085_A1086del2

c.3253_3257del6

1 paper

NM_001040108.2

p.T1083R

c.3248C>G

1 paper

NM_001040108.2

p.L1082M

c.3244C>A

2 papers

NM_001040108.2

p.D1081H

c.3241G>C

1 paper

NM_001040108.2

p.K1080R

c.3239A>G

1 paper

NM_001040108.2

p.T1079A

c.3235A>G

1 paper

NM_001040108.2

p.A1076_A1077insT

c.3226_3230ins3

1 paper

NM_001040108.2

p.D1073N

c.3217G>A

1 paper

NM_001040108.2

p.P1070Q

c.3209C>A

1 paper

NM_001040108.2

p.V1058F

c.3172G>T

1 paper

NM_001040108.2

p.Y1057delFs

c.3170_3171delAT