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

43 papers

NM_000535.7

p.M622I

c.1866G>C

Surrounding Variants

43 papers

NM_000535.7

p.M622I

c.1866G>T

1 paper

NM_000535.7

p.M622fs

c.1864_1865fs

48 papers

NM_000535.7

p.M622I

c.1866G>A

7 papers

NM_000535.7

p.S621_M622delFs

c.1863_1864delTA

1 paper

NM_000535.7

p.M622insFs

c.1865_1866insA

1 paper

NM_000535.7

p.M622R

c.1865T>G

1 paper

NM_000535.7

p.M622T

c.1865T>C

2 papers

NM_000535.7

p.M622K

c.1865T>A

1 paper

NM_000535.7

p.M622delFs

c.1864delT

2 papers

NM_000535.7

p.M622delFs

c.1866delC

1 paper

NM_000535.7

p.S623I

c.1868G>T

4 papers

NM_000535.7

p.M622fs

c.1864_1865fs