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.T820I

c.2459C>T

Surrounding Variants

4 papers

NM_000535.7

p.T820insFs

c.2458dupA

2 papers

NM_000535.7

p.T820fs

c.2458_2459fs

1 paper

NM_000535.7

p.T820A

c.2458A>G

1 paper

NM_000535.7

p.A821_L822insG

c.2461_2465ins3

1 paper

NM_000535.7

p.A821delFs

c.2461_2462delGC

1 paper

NM_000535.7

p.L822V

c.2464C>G

1 paper

NM_000535.7

p.L822R

c.2465T>G

2 papers

NM_000535.7

p.I818T

c.2453T>C

1 paper

NM_000535.7

p.L822P

c.2465T>C

1 paper

NM_000535.7

p.L822L

c.2466T>G

23 papers

NM_000535.7

p.L822L

c.2466T>C

1 paper

NM_000535.7

p.L822L

c.2466T>A