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

2 papers

NM_000535.7

p.S34N

c.101G>A

Surrounding Variants

4 papers

NM_000535.7

p.S34I

c.101G>T

1 paper

NM_000535.7

p.S34T

c.101G>C

1 paper

NM_000535.7

p.L33delFs

c.98_99delCA

1 paper

NM_000535.7

p.L33L

c.99G>A

1 paper

NM_000535.7

p.L33delFs

c.98delA

1 paper

NM_000535.7

p.L35L

c.103C>T

2 papers

NM_000535.7

p.L35V

c.103C>G

1 paper

NM_000535.7

p.S34insFs

c.102dupT

1 paper

NM_000535.7

p.L33insFs

c.97_98insC

1 paper

NM_000535.7

p.L35insFs

c.104_105insA

1 paper

NM_000535.7

p.L35insFs

c.104_105insAA

2 papers

NM_000535.7

p.L33R

c.98T>G