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.I15I

c.45C>T

Surrounding Variants

2 papers

NM_000535.7

p.I15insFs

c.44dupT

2 papers

NM_000535.7

p.I15I

c.45C>A

1 paper

NM_000535.7

p.I15S

c.44T>G

1 paper

NM_000535.7

p.I15T

c.44T>C

1 paper

NM_000535.7

p.I15N

c.44T>A

1 paper

NM_000535.7

p.I15delFs

c.43delT

6 papers

NM_000535.7

p.K16E

c.46A>G

1 paper

NM_000535.7

p.A14_I15delFs

c.41_44del4

1 paper

NM_000535.7

p.I15fs

c.43_44fs

1 paper

NM_000535.7

p.K16I

c.47A>T

1 paper

NM_000535.7

p.K16R

c.47A>G

1 paper

NM_000535.7

p.K16T

c.47A>C