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.I462insFs

c.1384dupA

Surrounding Variants

1 paper

NM_000535.7

p.I462T

c.1385T>C

1 paper

NM_000535.7

p.I462I

c.1386C>T

5 papers

NM_000535.7

p.I462V

c.1384A>G

2 papers

NM_000535.7

p.I462L

c.1384A>C

1 paper

NM_000535.7

p.A461insFs

c.1383dupC

1 paper

NM_000535.7

p.A461_I462delFs

c.1382_1386del5

2 papers

NM_000535.7

p.A461V

c.1382C>T

1 paper

NM_000535.7

p.G460_A461delFs

c.1380_1381delCA

1 paper

NM_000535.7

p.G460insFs

c.1380dupT

1 paper

NM_000535.7

p.A461T

c.1381G>A

1 paper

NM_000535.7

p.D464Y

c.1390G>T

3 papers

NM_000535.7

p.G460D

c.1379G>A