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.T832delFs

c.2494delT

Surrounding Variants

1 paper

NM_000535.7

p.T832A

c.2494A>G

1 paper

NM_000535.7

p.L830_I831insFs

c.2490_2493dup4

1 paper

NM_000535.7

p.I831delFs

c.2492_2493delGA

1 paper

NM_000535.7

p.I831I

c.2493C>A

1 paper

NM_000535.7

p.I831S

c.2492T>G

1 paper

NM_000535.7

p.K829_H833insFs

c.2485_2498dup14

1 paper

NM_000535.7

p.I831fs

c.2491_2492fs

1 paper

NM_000535.7

p.I831F

c.2491A>T

1 paper

NM_000535.7

p.I831V

c.2491A>G

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.M834insFs

c.2500_2501insA