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.P148L

c.443C>T

Surrounding Variants

1 paper

NM_000535.7

p.P148T

c.442C>A

1 paper

NM_000535.7

p.T147insFs

c.441dupC

4 papers

NM_000535.7

p.P148delFs

c.444delG

1 paper

NM_000535.7

p.P148delFs

c.442_443delGG

1 paper

NM_000535.7

p.T147insFs

c.439_440dupAC

5 papers

NM_000535.7

p.Y149fs

c.445_446fs

2 papers

NM_000535.7

p.T147N

c.440C>A

2 papers

NM_000535.7

p.Y149F

c.446A>T

1 paper

NM_000535.7

p.Y149S

c.446A>C

4 papers

NM_000535.7

p.Y149delFs

c.445delA

1 paper

NM_000535.7

p.Y149*

c.447C>G

1 paper

NM_000535.7

p.Y149fs

c.445_446fs