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.Q400*

c.1198C>T

Surrounding Variants

1 paper

NM_000535.7

p.Q400fs

c.1198_1199fs

1 paper

NM_000535.7

p.K399insFs

c.1196_1197dupAG

1 paper

NM_000535.7

p.K399insFs

c.1196dupA

1 paper

NM_000535.7

p.K399insFs

c.1196_1197ins7

1 paper

NM_000535.7

p.K399K

c.1197G>A

1 paper

NM_000535.7

p.E398delFs

c.1193delT

6 papers

NM_000535.7

p.Q400P

c.1199A>C

1 paper

NM_000535.7

p.Q400insFs

c.1198dupC

1 paper

NM_000535.7

p.Q400Q

c.1200G>A

1 paper

NM_000535.7

p.E398_Q400delFs

c.1193_1199del7

1 paper

NM_000535.7

p.K399insFs

c.1195_1196ins7

2 papers

NM_000535.7

p.D401Y

c.1201G>T