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.S164delFs

c.492delG

Surrounding Variants

1 paper

NM_000535.7

p.Q161_S164del4

c.481_491del12

2 papers

NM_000535.7

p.S164S

c.492C>T

1 paper

NM_000535.7

p.T165I

c.494C>T

1 paper

NM_000535.7

p.T165delFs

c.493delT

1 paper

NM_000535.7

p.S164C

c.491C>G

1 paper

NM_000535.7

p.F163delFs

c.488delA

1 paper

NM_000535.7

p.S164P

c.490T>C

1 paper

NM_000535.7

p.L166V

c.496C>G

1 paper

NM_000535.7

p.L166I

c.496C>A

1 paper

NM_000535.7

p.L166fs

c.496_497fs

1 paper

NM_000535.7

p.L166insFs

c.496dupC

7 papers

NM_000535.7

p.L166P

c.497T>C