Varaico: Literature-Extracted Genetic Variants

PMS2

2,219 papers

RefSeq Summary

The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and ...

Pfam Domains

HATPase_c_3aa 33–162UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

DNA_mis_repairaa 114–228UCSCDNA mismatch repair protein, C-terminal domain

DNA_mis_repairaa 249–363UCSCDNA mismatch repair protein, C-terminal domain

MutL_Caa 544–687UCSCMutL C terminal dimerisation domain

Gene Aliases

HGNC Name

PMS1 homolog 2, mismatch repair system component

HGNC Previous Symbol

PMSL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000535.7

p.L135_M136del2

c.403_407del6

Surrounding Variants

1 paper

NM_000535.7

p.M136delFs

c.408delC

1 paper

NM_000535.7

p.M136I

c.408G>T

1 paper

NM_000535.7

p.M136I

c.408G>C

1 paper

NM_000535.7

p.M136I

c.408G>A

1 paper

NM_000535.7

p.M136delFs

c.407delA

1 paper

NM_000535.7

p.L135_M136delFs

c.404_407del4

1 paper

NM_000535.7

p.M136T

c.407T>C

1 paper

NM_000535.7

p.T133_F137delFs

c.397_410del14

1 paper

NM_000535.7

p.D138Y

c.412G>T

1 paper

NM_001322009.2

p.F2insFs

c.4_5insT

1 paper

NM_000535.7

p.M136L

c.406A>T

4 papers

NM_000535.7

p.M136V

c.406A>G