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.M834delFs

c.2500_2501delAT

Surrounding Variants

1 paper

NM_000535.7

p.M834delFs

c.2501delA

1 paper

NM_000535.7

p.M834insFs

c.2500_2501insA

1 paper

NM_000535.7

p.M834R

c.2501T>G

1 paper

NM_000535.7

p.M834T

c.2501T>C

4 papers

NM_000535.7

p.M834Fs

c.2500_2501delinsGFs

1 paper

NM_000535.7

p.T832_H833del2

c.2494_2498del6

4 papers

NM_000535.7

p.M834fs

c.2500_2501fs

1 paper

NM_000535.7

p.M834V

c.2500A>G

1 paper

NM_000535.7

p.K829_H833insFs

c.2485_2498dup14

1 paper

NM_000535.7

p.E836*

c.2506G>T

2 papers

NM_000535.7

p.E836fs

c.2506_2507fs

1 paper

NM_000535.7

p.M834insFs

c.2502dupG