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.H514fs

c.1540_1541fs

Surrounding Variants

1 paper

NM_000535.7

p.H514insFs

c.1542dupC

1 paper

NM_000535.7

p.C515insFs

c.1543_1544insA

1 paper

NM_000535.7

p.S513_H514delFs

c.1539_1542del4

1 paper

NM_000535.7

p.S513delFs

c.1538_1539delAC

1 paper

NM_000535.7

p.S513delFs

c.1538delC

1 paper

NM_000535.7

p.G512_C515delFs

c.1534_1543del10

1 paper

NM_000535.7

p.S516G

c.1546A>G

1 paper

NM_000535.7

p.S516I

c.1547G>T

1 paper

NM_000535.7

p.S516delFs

c.1546delT

1 paper

NM_000535.7

p.G512insFs

c.1536dupC

1 paper

NM_000535.7

p.S516R

c.1548C>G

1 paper

NM_000535.7

p.T511delFs

c.1533delC