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

1–12 of 4667 variants

171 papers

NM_000535.7

p.S46I

c.137G>T

78 papers

NM_000535.7

p.P470S

c.1408C>T

69 papers

NM_000535.7

p.E705K

c.2113G>A

60 papers

NM_000535.7

p.K541E

c.1621A>G

56 papers

NM_000535.7

p.I611insFs

c.1831dupA

55 papers

NM_000535.7

p.R20Q

c.59G>A

53 papers

NM_000535.7

p.R315*

c.943C>T

52 papers

NM_000535.7

p.M1V

c.1A>G

51 papers

NM_000535.7

p.R628*

c.1882C>T

48 papers

NM_000535.7

p.M622I

c.1866G>A

47 papers

NM_000535.7

p.T485K

c.1454C>A

46 papers

NM_000535.7

p.G857A

c.2570G>C