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

2 papers

NM_000535.7

p.S547insFs

c.1639dupT

Surrounding Variants

1 paper

NM_000535.7

p.F546_S547insFs

c.1638_1639dupTT

1 paper

NM_000535.7

p.S547delFs

c.1639delA

2 papers

NM_000535.7

p.F546_S547delFs

c.1638_1639delAA

2 papers

NM_000535.7

p.D543_F546del4

c.1627_1637del12

3 papers

NM_000535.7

p.S547fs

c.1639_1640fs

1 paper

NM_000535.7

p.F546L

c.1638T>G

1 paper

NM_000535.7

p.F546L

c.1638T>A

1 paper

NM_000535.7

p.S545_F546delFs

c.1634_1637del4

1 paper

NM_000535.7

p.F546_S547insFs

c.1637_1641dup5

1 paper

NM_000535.7

p.D548N

c.1642G>A

1 paper

NM_000535.7

p.D548D

c.1644T>C

1 paper

NM_000535.7

p.F546L

c.1636T>C