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

4 papers

NM_000535.7

p.S36R

c.108C>G

Surrounding Variants

4 papers

NM_000535.7

p.S36R

c.108C>A

1 paper

NM_000535.7

p.I26_S36del0

c.78_107del30

1 paper

NM_000535.7

p.S36I

c.107G>T

1 paper

NM_000535.7

p.S36delins

c.107delinsAAAT

2 papers

NM_000535.7

p.L35insFs

c.105dupA

1 paper

NM_000535.7

p.S36N

c.107G>A

1 paper

NM_000535.7

p.T37A

c.109A>G

1 paper

NM_000535.7

p.T37_A38insCC

c.109_113ins6

1 paper

NM_000535.7

p.T37I

c.110C>T

4 papers

NM_000535.7

p.S36R

c.106A>C

2 papers

NM_000535.7

p.S36insFs

c.106_107insC

1 paper

NM_000535.7

p.S36_T37insGGT

c.106_110ins9