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.H139Y

c.415C>T

Surrounding Variants

1 paper

NM_000535.7

p.H139N

c.415C>A

1 paper

NM_000535.7

p.H139H

c.417C>T

1 paper

NM_000535.7

p.H139delFs

c.416delT

1 paper

NM_000535.7

p.D138Y

c.412G>T

1 paper

NM_001322009.2

p.F2insFs

c.4_5insT

3 papers

NM_000535.7

p.N140D

c.418A>G

1 paper

NM_000535.7

p.T133_F137delFs

c.397_410del14

2 papers

NM_000535.7

p.N140S

c.419A>G

1 paper

NM_000535.7

p.M136delFs

c.408delC

1 paper

NM_000535.7

p.L135_M136del2

c.403_407del6

2 papers

NM_000535.7

p.G141W

c.421G>T

1 paper

NM_000535.7

p.N140insFs

c.420dupT