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.P654T

c.1960C>A

Surrounding Variants

1 paper

NM_000535.7

p.C653delFs

c.1959delA

5 papers

NM_000535.7

p.C653*

c.1959T>A

8 papers

NM_000535.7

p.P654L

c.1961C>T

1 paper

NM_000535.7

p.C653_P654insFs

c.1957_1960dup4

1 paper

NM_000535.7

p.P654insFs

c.1961dupC

1 paper

NM_000535.7

p.I652_C653delFs

c.1956_1957delAA

1 paper

NM_000535.7

p.K651_I652delFs

c.1953_1956del4

1 paper

NM_000535.7

p.G655R

c.1963G>A

1 paper

NM_000535.7

p.I652M

c.1956T>G

1 paper

NM_000535.7

p.G655E

c.1964G>A

1 paper

NM_000535.7

p.A650_P654del5

c.1948_1961del15

1 paper

NM_000535.7

p.I652N

c.1955T>A