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.T671_E675del0

c.2013_2024del12

Surrounding Variants

1 paper

NM_000535.7

p.E675D

c.2025A>T

1 paper

NM_000535.7

p.E675D

c.2025A>C

2 papers

NM_000535.7

p.M676V

c.2026A>G

3 papers

NM_000535.7

p.S669_E675delFs

c.2007_2023del17

1 paper

NM_000535.7

p.M676T

c.2027T>C

1 paper

NM_000535.7

p.E675*

c.2023G>T

1 paper

NM_000535.7

p.A674delFs

c.2021_2022delTG

1 paper

NM_000535.7

p.M676I

c.2028G>T

1 paper

NM_000535.7

p.M676I

c.2028G>C

1 paper

NM_000535.7

p.M676I

c.2028G>A

1 paper

NM_000535.7

p.E677*

c.2029G>T

1 paper

NM_000535.7

p.E677K

c.2029G>A