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

9 papers

NM_000535.7

p.Q402delFs

c.1205delT

Surrounding Variants

1 paper

NM_000535.7

p.M396_S403delFs

c.1188_1207del20

2 papers

NM_000535.7

p.Q402fs

c.1204_1205fs

1 paper

NM_000535.7

p.Q402R

c.1205A>G

1 paper

NM_000535.7

p.Q402delFs

c.1204delG

1 paper

NM_000535.7

p.D401_Q402delFs

c.1201_1204del4

2 papers

NM_000535.7

p.P404fs

c.1210_1211fs

3 papers

NM_000535.7

p.Q402*

c.1204C>T

2 papers

NM_000535.7

p.Q402E

c.1204C>G

1 paper

NM_000535.7

p.D401insFs

c.1203dupT

3 papers

NM_000535.7

p.Q402K

c.1204C>A

5 papers

NM_000535.7

p.Q402fs

c.1204_1205fs

1 paper

NM_000535.7

p.D401insFs

c.1201_1202dupGA