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.I122S

c.365T>G

Surrounding Variants

1 paper

NM_000535.7

p.I122Fs

c.365delinsCGGFs

1 paper

NM_000535.7

p.I122L

c.364A>C

1 paper

NM_000535.7

p.I122insFs

c.364_365insCG

1 paper

NM_000535.7

p.T121delFs

c.362delG

1 paper

NM_000535.7

p.S123fs

c.367_368fs

1 paper

NM_000535.7

p.T121T

c.363C>T

1 paper

NM_000535.7

p.I122delFs

c.365delA

1 paper

NM_000535.7

p.I122delFs

c.365_366delAA

1 paper

NM_000535.7

p.S123fs

c.367_368fs

2 papers

NM_000535.7

p.S123delFs

c.368delG

1 paper

NM_000535.7

p.V120V

c.360C>T

1 paper

NM_000535.7

p.T124fs

c.370_371fs