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.H496delFs

c.1486delG

Surrounding Variants

7 papers

NM_000535.7

p.H496H

c.1488C>T

1 paper

NM_000535.7

p.E491_G495delFs

c.1472_1485del14

1 paper

NM_000535.7

p.H496delFs

c.1487delT

1 paper

NM_000535.7

p.G497insFs

c.1489_1490insCG

1 paper

NM_000535.7

p.H496insFs

c.1486_1487dupCA

3 papers

NM_000535.7

p.G497S

c.1489G>A

1 paper

NM_000535.7

p.G495V

c.1484G>T

1 paper

NM_000535.7

p.G495insFs

c.1484_1485insC

13 papers

NM_000535.7

p.G497D

c.1490G>A

1 paper

NM_000535.7

p.H496_G497del1

c.1487_1489delCGT

1 paper

NM_000535.7

p.G495R

c.1483G>C

1 paper

NM_000535.7

p.G495R

c.1483G>A