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.P1178L

c.3533C>T

Surrounding Variants

1 paper

NM_001040108.2

p.R1180H

c.3539G>A

1 paper

NM_001040108.2

p.K1183R

c.3548A>G

1 paper

NM_001040108.2

p.I1172insFs

c.3514dupA

1 paper

NM_001040108.2

p.I1172insFs

c.3514_3515insAA

1 paper

NM_001040108.2

p.I1186V

c.3556A>G

16 papers

NM_001040108.2

p.S1188*

c.3563C>G

14 papers

NM_001040108.2

p.S1188*

c.3563C>A

1 paper

NM_001040108.2

p.Q1190_V1191Splc

c.3570+1G>A

1 paper

NM_001040108.2

p.A1165fs

c.3493_3494fs

1 paper

NM_001040108.2

p.Q1164_A1165insFs

c.3492_3493ins4

1 paper

NM_001040108.2

p.Q1164*

c.3490C>T

10 papers

NM_001040108.2

p.G1163D

c.3488G>A