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.V302_V306del5

c.904_917del15

Surrounding Variants

1 paper

NM_000535.7

p.V306delFs

c.918delC

1 paper

NM_000535.7

p.N307insFs

c.920dupA

2 papers

NM_000535.7

p.N307K

c.921T>G

3 papers

NM_000535.7

p.V306A

c.917T>C

2 papers

NM_000535.7

p.N307K

c.921T>A

2 papers

NM_000535.7

p.V306E

c.917T>A

2 papers

NM_000535.7

p.E308Q

c.922G>C

5 papers

NM_000535.7

p.V306M

c.916G>A

1 paper

NM_000535.7

p.V306fs

c.916_917fs

1 paper

NM_000535.7

p.E308fs

c.922_923fs

1 paper

NM_000535.7

p.L305L

c.915C>T

1 paper

NM_000535.7

p.L305L

c.915C>G