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.P11P

c.33T>C

Surrounding Variants

1 paper

NM_000535.7

p.P11_A12ins2

c.33_34ins6

1 paper

NM_000535.7

p.P11P

c.33T>G

3 papers

NM_000535.7

p.P11P

c.33T>A

1 paper

NM_000535.7

p.P11delFs

c.31delG

1 paper

NM_000535.7

p.A12fs

c.34_35fs

4 papers

NM_000535.7

p.A12S

c.34G>T

3 papers

NM_000535.7

p.A12P

c.34G>C

1 paper

NM_000535.7

p.A12T

c.34G>A

1 paper

NM_000535.7

p.P11delFs

c.33delA

1 paper

NM_000535.7

p.P11insFs

c.32_33ins4

1 paper

NM_000535.7

p.A12V

c.35C>T

1 paper

NM_000535.7

p.A12insFs

c.34dupG