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.E10insFs

c.29_30ins4

Surrounding Variants

1 paper

NM_000535.7

p.E10G

c.29A>G

1 paper

NM_000535.7

p.E10A

c.29A>C

3 papers

NM_000535.7

p.E10*

c.28G>T

1 paper

NM_000535.7

p.E10K

c.28G>A

1 paper

NM_000535.7

p.E10D

c.30A>T

3 papers

NM_000535.7

p.E10E

c.30A>G

1 paper

NM_000535.7

p.E10D

c.30A>C

1 paper

NM_000535.7

p.E10_P11ins1

c.30_31insGGA

1 paper

NM_000535.7

p.T9_E10delFs

c.26_29del4

1 paper

NM_000535.7

p.P11ins1

c.31_32insGAG

1 paper

NM_000535.7

p.E10insFs

c.29dupA

1 paper

NM_000535.7

p.E10delFs

c.29delT