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.L305L

c.915C>G

Surrounding Variants

1 paper

NM_000535.7

p.L305L

c.915C>T

1 paper

NM_000535.7

p.L305insFs

c.913dupC

5 papers

NM_000535.7

p.V306M

c.916G>A

1 paper

NM_000535.7

p.V306fs

c.916_917fs

3 papers

NM_000535.7

p.V306A

c.917T>C

2 papers

NM_000535.7

p.V306E

c.917T>A

3 papers

NM_000535.7

p.L305V

c.913C>G

1 paper

NM_000535.7

p.R304insFs

c.912dupA

2 papers

NM_000535.7

p.R304delFs

c.911delC

7 papers

NM_000535.7

p.V302_R304delFs

c.904_911del8

1 paper

NM_000535.7

p.R304I

c.911G>T

1 paper

NM_000535.7

p.R304T

c.911G>C