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.V23_H24Fs

c.68_72delinsCTAFs

Surrounding Variants

1 paper

NM_000535.7

p.H24insFs

c.71dupA

1 paper

NM_000535.7

p.H24Q

c.72T>G

2 papers

NM_000535.7

p.H24H

c.72T>C

5 papers

NM_000535.7

p.Q25*

c.73C>T

1 paper

NM_000535.7

p.V23_H24insFs

c.69_70insC

1 paper

NM_000535.7

p.H24delFs

c.70delG

1 paper

NM_000535.7

p.P11_V23del13

c.31_68del39

1 paper

NM_000535.7

p.H24Y

c.70C>T

3 papers

NM_000535.7

p.V23delFs

c.68_69delGA

2 papers

NM_000535.7

p.S22_V23delFs

c.66_69del4

1 paper

NM_000535.7

p.S22_V23del2

c.64_68del6

1 paper

NM_000535.7

p.A12_V23delFs

c.36_69del34