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

39 papers

NM_000535.7

p.T597S

c.1789A>T

Surrounding Variants

1 paper

NM_000535.7

p.T597A

c.1789A>G

1 paper

NM_000535.7

p.T597_Q598ins4

c.1789_1793ins12

1 paper

NM_000535.7

p.N596insFs

c.1787dupA

34 papers

NM_000535.7

p.T597S

c.1790C>G

1 paper

NM_000535.7

p.N596_T597delFs

c.1788_1789delTA

5 papers

NM_000535.7

p.N596del1

c.1786_1788delATT

1 paper

NM_000535.7

p.T597Fs

c.1790_1791delinsATCTGGACCFs

6 papers

NM_000535.7

p.N596S

c.1787A>G

1 paper

NM_000535.7

p.N596fs

c.1786_1787fs

2 papers

NM_000535.7

p.Q598*

c.1792C>T

2 papers

NM_000535.7

p.Q598_D599insC

c.1792_1796ins3

1 paper

NM_000535.7

p.V595insFs

c.1784dupT