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.F291I

c.871T>A

Surrounding Variants

1 paper

NM_000535.7

p.F290insFs

c.870dupC

1 paper

NM_000535.7

p.F291V

c.871T>G

2 papers

NM_000535.7

p.F291fs

c.871_872fs

1 paper

NM_000535.7

p.F290delFs

c.870delG

1 paper

NM_000535.7

p.F290insFs

c.869dupT

1 paper

NM_000535.7

p.F289insFs

c.866_867dupTT

2 papers

NM_000535.7

p.F290fs

c.868_869fs

2 papers

NM_000535.7

p.F290delFs

c.869delA

1 paper

NM_000535.7

p.F289delFs

c.866_867delAA

1 paper

NM_000535.7

p.F290S

c.869T>C

2 papers

NM_000535.7

p.F290Y

c.869T>A

2 papers

NM_000535.7

p.F290V

c.868T>G