Varaico: Literature-Extracted Genetic Variants

MLH1

3,641 papers

RefSeq Summary

The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some ac...

Pfam Domains

HATPase_c_3aa 26–139UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

Mlh1_Caa 161–415UCSCDNA mismatch repair protein Mlh1 C-terminus

DNA_mis_repairaa 216–335UCSCDNA mismatch repair protein, C-terminal domain

Mlh1_Caa 577–701UCSCDNA mismatch repair protein Mlh1 C-terminus

Mlh1_Caa 630–725UCSCDNA mismatch repair protein Mlh1 C-terminus

Mlh1_Caa 637–687UCSCDNA mismatch repair protein Mlh1 C-terminus

Gene Aliases

HGNC Name

mutL homolog 1

HGNC Previous Symbol

COCA2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_000249.4

p.A5P

c.13G>C

Surrounding Variants

2 papers

NM_000249.4

p.A5T

c.13G>A

1 paper

NM_000249.4

p.A5S

c.13G>T

4 papers

NM_000249.4

p.A5E

c.14C>A

2 papers

NM_000249.4

p.A5V

c.14C>T

1 paper

NM_000249.4

p.A5_I8delFs

c.15_22del8

17 papers

NM_000249.4

p.V4V

c.12G>A

26 papers

NM_000249.4

p.V4V

c.12G>C

2 papers

NM_000249.4

p.V4V

c.12G>T

1 paper

NM_000249.4

p.A5A

c.15A>C

2 papers

NM_000249.4

p.A5A

c.15A>G

2 papers

NM_000249.4

p.A5A

c.15A>T

2 papers

NM_000249.4

p.G6delFs

c.16delG