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.T499delFs

c.1497delA

Surrounding Variants

1 paper

NM_000535.7

p.S500F

c.1499C>T

1 paper

NM_000535.7

p.S500S

c.1500C>T

2 papers

NM_000535.7

p.S500insFs

c.1500dupC

2 papers

NM_000535.7

p.V501M

c.1501G>A

3 papers

NM_000535.7

p.V501fs

c.1501_1502fs

7 papers

NM_000535.7

p.S500delFs

c.1500delG

1 paper

NM_000535.7

p.T499S

c.1496C>G

1 paper

NM_000535.7

p.V501fs

c.1501_1502fs

1 paper

NM_000535.7

p.V501Fs

c.1502_1503delinsAFs

1 paper

NM_000535.7

p.S498_V501delFs

c.1492_1502del11

1 paper

NM_000535.7

p.T499S

c.1495A>T

1 paper

NM_000535.7

p.T499A

c.1495A>G