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.P17S

c.49C>T

Surrounding Variants

1 paper

NM_000535.7

p.K13_K16delFs

c.39_48del10

1 paper

NM_000535.7

p.I15_K16delFs

c.45_48del4

1 paper

NM_000535.7

p.K16_P17ins1

c.48_49insTGG

2 papers

NM_000535.7

p.P17P

c.51T>C

1 paper

NM_000535.7

p.K16_P17delFs

c.47_50del4

1 paper

NM_000535.7

p.K16I

c.47A>T

1 paper

NM_000535.7

p.K16R

c.47A>G

1 paper

NM_000535.7

p.K16T

c.47A>C

1 paper

NM_000535.7

p.A12_K16delFs

c.34_46del13

4 papers

NM_000535.7

p.I18fs

c.52_53fs

1 paper

NM_000535.7

p.I18F

c.52A>T

39 papers

NM_000535.7

p.I18V

c.52A>G