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.R810G

c.2428A>G

Surrounding Variants

1 paper

NM_000535.7

p.S809insFs

c.2427dupC

1 paper

NM_000535.7

p.R810delFs

c.2429delC

1 paper

NM_000535.7

p.S809A

c.2425T>G

1 paper

NM_000535.7

p.A808delFs

c.2424delG

1 paper

NM_000535.7

p.A808fs

c.2422_2423fs

1 paper

NM_000535.7

p.C812G

c.2434T>G

1 paper

NM_000535.7

p.C812S

c.2434T>A

1 paper

NM_000535.7

p.A811delFs

c.2433delG

1 paper

NM_000535.7

p.R810_A811del2

c.2428_2432del6

1 paper

NM_000535.7

p.A808_A811del4

c.2422_2432del12

2 papers

NM_000535.7

p.A808S

c.2422G>T

1 paper

NM_000535.7

p.F807insFs

c.2419dupT