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.I859_S860del2

c.2575_2579del6

Surrounding Variants

1 paper

NM_000535.7

p.Q861*

c.2581C>T

1 paper

NM_000535.7

p.M850_S860del11

c.2548_2579del33

1 paper

NM_000535.7

p.Q861Q

c.2583G>A

1 paper

NM_000535.7

p.S860F

c.2579C>T

1 paper

NM_000535.7

p.S860Y

c.2579C>A

1 paper

NM_000535.7

p.I859delFs

c.2576delA

1 paper

NM_000535.7

p.S860A

c.2578T>G

1 paper

NM_000535.7

p.N862insFs

c.2585_2586insC

1 paper

NM_000535.7

p.N862insFs

c.2585dupA

1 paper

NM_000535.7

p.*863G

c.2587T>G

1 paper

NM_000535.7

p.I859V

c.2575A>G

1 paper

NM_000535.7

p.V858insFs

c.2574dupC