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.L632_H633insT

c.1894_1898ins3

Surrounding Variants

1 paper

NM_000535.7

p.Q631delFs

c.1893delC

1 paper

NM_000535.7

p.K630_Q631delFs

c.1889_1892del4

1 paper

NM_000535.7

p.Q631R

c.1892A>G

1 paper

NM_000535.7

p.Q631P

c.1892A>C

1 paper

NM_000535.7

p.H633fs

c.1897_1898fs

2 papers

NM_000535.7

p.Q631fs

c.1891_1892fs

1 paper

NM_000535.7

p.Q631*

c.1891C>T

1 paper

NM_000535.7

p.K630insFs

c.1890dupG

1 paper

NM_000535.7

p.K630insFs

c.1888dupA

2 papers

NM_000535.7

p.K630delFs

c.1889delT

1 paper

NM_000535.7

p.K630Fs

c.1889_1890delinsCFs

1 paper

NM_000535.7

p.R628_K630delFs

c.1884_1888del5