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.S482insFs

c.1446dupT

Surrounding Variants

3 papers

NM_000535.7

p.D483Y

c.1447G>T

1 paper

NM_000535.7

p.D483N

c.1447G>A

1 paper

NM_000535.7

p.S482del1

c.1444_1445delACT

1 paper

NM_000535.7

p.P481_S482insFs

c.1442_1445dup4

1 paper

NM_000535.7

p.D483delFs

c.1447delC

1 paper

NM_000535.7

p.S482insFs

c.1444dupA

1 paper

NM_000535.7

p.S482T

c.1445G>C

1 paper

NM_000535.7

p.S482N

c.1445G>A

2 papers

NM_000535.7

p.S482delFs

c.1444delT

1 paper

NM_000535.7

p.D483delFs

c.1447_1448delTC

4 papers

NM_000535.7

p.P484T

c.1450C>A

1 paper

NM_000535.7

p.S482_D483delFs

c.1445_1449del5