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.K40E

c.118A>G

Surrounding Variants

4 papers

NM_000535.7

p.V39V

c.117A>G

1 paper

NM_000535.7

p.K40R

c.119A>G

2 papers

NM_000535.7

p.V39fs

c.115_116fs

3 papers

NM_000535.7

p.V39delFs

c.116delA

1 paper

NM_000535.7

p.V39delFs

c.115delC

1 paper

NM_000535.7

p.K40insFs

c.119dupA

1 paper

NM_000535.7

p.K40K

c.120G>A

1 paper

NM_000535.7

p.K40delFs

c.119delT

7 papers

NM_000535.7

p.E41*

c.121G>T

1 paper

NM_000535.7

p.V39L

c.115G>T

1 paper

NM_000535.7

p.V39_K40insGGC

c.115_119ins9

3 papers

NM_000535.7

p.E41Q

c.121G>C