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.L323delFs

c.968_969delAA

Surrounding Variants

2 papers

NM_000535.7

p.N324D

c.970A>G

2 papers

NM_000535.7

p.L323fs

c.967_968fs

1 paper

NM_000535.7

p.N324S

c.971A>G

1 paper

NM_000535.7

p.N324N

c.972C>T

1 paper

NM_000535.7

p.N324K

c.972C>G

1 paper

NM_000535.7

p.N324insFs

c.971dupA

1 paper

NM_000535.7

p.L323_N324insFs

c.968_971dup4

2 papers

NM_000535.7

p.N324K

c.972C>A

1 paper

NM_000535.7

p.N324delFs

c.970delT

1 paper

NM_000535.7

p.N324delFs

c.970_971delTT

1 paper

NM_000535.7

p.L323_N324delFs

c.968_971del4

2 papers

NM_000535.7

p.I325_S326insG

c.973_977ins3