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

4 papers

NM_000535.7

p.G452R

c.1354G>C

Surrounding Variants

2 papers

NM_000535.7

p.G452C

c.1354G>T

1 paper

NM_000535.7

p.G452insFs

c.1354_1355insT

1 paper

NM_000535.7

p.G452S

c.1354G>A

1 paper

NM_000535.7

p.G452V

c.1355G>T

1 paper

NM_000535.7

p.R451fs

c.1351_1352fs

1 paper

NM_000535.7

p.G452A

c.1355G>C

1 paper

NM_000535.7

p.G452D

c.1355G>A

1 paper

NM_000535.7

p.G452delFs

c.1354delC

1 paper

NM_000535.7

p.R451delFs

c.1352_1353delCC

2 papers

NM_000535.7

p.R451insFs

c.1351dupA

1 paper

NM_000535.7

p.R451Fs

c.1352delinsACFs

2 papers

NM_000535.7

p.K450delFs

c.1349delT