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.N612insFs

c.1836dupT

Surrounding Variants

1 paper

NM_000535.7

p.K613E

c.1837A>G

1 paper

NM_000535.7

p.N612_K613delins

c.1834_1837delinsT

1 paper

NM_000535.7

p.N612delFs

c.1835delT

2 papers

NM_000535.7

p.K613M

c.1838A>T

1 paper

NM_000535.7

p.K613N

c.1839G>T

1 paper

NM_000535.7

p.K613insFs

c.1838dupA

1 paper

NM_000535.7

p.K613N

c.1839G>C

1 paper

NM_000535.7

p.K613K

c.1839G>A

1 paper

NM_000535.7

p.K613delFs

c.1838delT

1 paper

NM_000535.7

p.N612del1

c.1834_1836delATT

17 papers

NM_000535.7

p.K614*

c.1840A>T

2 papers

NM_000535.7

p.I611insFs

c.1833dupT