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.S825delFs

c.2473delT

Surrounding Variants

1 paper

NM_000535.7

p.N823_S825delFs

c.2469_2473del5

1 paper

NM_000535.7

p.S825delFs

c.2474delC

1 paper

NM_000535.7

p.S825fs

c.2473_2474fs

1 paper

NM_000535.7

p.E826K

c.2476G>A

1 paper

NM_000535.7

p.S825delFs

c.2475delG

1 paper

NM_000535.7

p.T824delFs

c.2471delG

1 paper

NM_000535.7

p.T824insFs

c.2471_2472insG

1 paper

NM_000535.7

p.T824A

c.2470A>G

1 paper

NM_000535.7

p.N823insFs

c.2469dupC

1 paper

NM_000535.7

p.T824fs

c.2470_2471fs

1 paper

NM_000535.7

p.L822_N823delFs

c.2466_2467delTA

1 paper

NM_000535.7

p.N823fs

c.2467_2468fs