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

6 papers

NM_000535.7

p.Q658*

c.1972C>T

Surrounding Variants

1 paper

NM_000535.7

p.N657delFs

c.1971delA

1 paper

NM_000535.7

p.N657fs

c.1969_1970fs

8 papers

NM_000535.7

p.N657insFs

c.1970dupA

1 paper

NM_000535.7

p.E656_N657insFs

c.1967_1970dup4

4 papers

NM_000535.7

p.N657delFs

c.1970delT

5 papers

NM_000535.7

p.N657fs

c.1969_1970fs

2 papers

NM_000535.7

p.N657H

c.1969A>C

1 paper

NM_000535.7

p.Q658_A659del1

c.1973_1975delCTT

1 paper

NM_000535.7

p.A659A

c.1977A>G

1 paper

NM_000535.7

p.C653_G655delFs

c.1958_1965del8

1 paper

NM_000535.7

p.A659delFs

c.1975_1976delGC

2 papers

NM_000535.7

p.A660T

c.1978G>A