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

5 papers

NM_000535.7

p.A572T

c.1714G>A

Surrounding Variants

1 paper

NM_000535.7

p.L571insFs

c.1711_1712insCT

1 paper

NM_000535.7

p.L571delFs

c.1713delG

4 papers

NM_000535.7

p.A572V

c.1715C>T

18 papers

NM_000535.7

p.L571I

c.1711C>A

1 paper

NM_000535.7

p.T573fs

c.1717_1718fs

4 papers

NM_000535.7

p.T573S

c.1717A>T

1 paper

NM_000535.7

p.N570insFs

c.1709dupA

1 paper

NM_000535.7

p.N570delFs

c.1708delT

1 paper

NM_000535.7

p.K561_T569del9

c.1681_1706del27

1 paper

NM_000535.7

p.T573I

c.1718C>T

4 papers

NM_000535.7

p.T573S

c.1718C>G

1 paper

NM_000535.7

p.A572insFs

c.1716dupA