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.Q449_K450delFs

c.1345_1348del4

Surrounding Variants

1 paper

NM_000535.7

p.K450R

c.1349A>G

2 papers

NM_000535.7

p.K450*

c.1348A>T

1 paper

NM_000535.7

p.Q449del1

c.1345_1346delCTG

3 papers

NM_000535.7

p.R451fs

c.1351_1352fs

2 papers

NM_000535.7

p.R451insFs

c.1351dupA

1 paper

NM_000535.7

p.R451Fs

c.1352delinsACFs

2 papers

NM_000535.7

p.K450delFs

c.1349delT

1 paper

NM_000535.7

p.K450_R451delFs

c.1350_1351delTT

1 paper

NM_000535.7

p.Q449L

c.1346A>T

1 paper

NM_000535.7

p.P442_Q449Fs

c.1325_1346delinsATTTTFs

1 paper

NM_000535.7

p.R451fs

c.1351_1352fs

3 papers

NM_000535.7

p.Q449*

c.1345C>T