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.M850R

c.2549T>G

Surrounding Variants

1 paper

NM_000535.7

p.M850K

c.2549T>A

1 paper

NM_000535.7

p.M850_R851insC

c.2548_2552ins3

1 paper

NM_000535.7

p.T849T

c.2547C>G

1 paper

NM_000535.7

p.R851insFs

c.2551_2552insCA

1 paper

NM_000535.7

p.T849delFs

c.2545delT

1 paper

NM_000535.7

p.T849A

c.2545A>G

1 paper

NM_000535.7

p.H845_P848del4

c.2533_2543del12

1 paper

NM_000535.7

p.M850_R851delFs

c.2550_2551delTC

1 paper

NM_000535.7

p.P848L

c.2543C>T

1 paper

NM_000535.7

p.R847_P848delFs

c.2539_2542del4

1 paper

NM_000535.7

p.H852insFs

c.2554dupC

1 paper

NM_000535.7

p.R847S

c.2541G>T