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.A488_V490delFs

c.1464_1468del5

Surrounding Variants

3 papers

NM_000535.7

p.E491*

c.1471G>T

2 papers

NM_000535.7

p.E489E

c.1467G>A

1 paper

NM_000535.7

p.E491fs

c.1471_1472fs

2 papers

NM_000535.7

p.E489*

c.1465G>T

1 paper

NM_000535.7

p.E489insFs

c.1465_1466insC

1 paper

NM_000535.7

p.E489K

c.1465G>A

1 paper

NM_000535.7

p.A488delFs

c.1462_1463delGC

1 paper

NM_000535.7

p.V490_E491Fs

c.1470_1473delinsAAAFs

1 paper

NM_000535.7

p.A488A

c.1464G>A

1 paper

NM_000535.7

p.A488delFs

c.1463delG

1 paper

NM_000535.7

p.E491del1

c.1471_1472delCTC

5 papers

NM_000535.7

p.A488V

c.1463C>T