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.S587G

c.1759A>G

Surrounding Variants

2 papers

NM_000535.7

p.S586insFs

c.1758dupC

2 papers

NM_000535.7

p.S586delFs

c.1757delG

1 paper

NM_000535.7

p.S587I

c.1760G>T

6 papers

NM_000535.7

p.S587N

c.1760G>A

1 paper

NM_000535.7

p.E582_S586delFs

c.1745_1758del14

1 paper

NM_000535.7

p.S586S

c.1758C>T

1 paper

NM_000535.7

p.S586S

c.1758C>A

2 papers

NM_000535.7

p.S587delFs

c.1760delC

2 papers

NM_000535.7

p.S586C

c.1757C>G

1 paper

NM_000535.7

p.L585L

c.1755T>C

1 paper

NM_000535.7

p.S588C

c.1763C>G

1 paper

NM_000535.7

p.S588insFs

c.1762_1763insT