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.M806insFs

c.2418dupG

Surrounding Variants

1 paper

NM_000535.7

p.F807L

c.2421T>A

2 papers

NM_000535.7

p.A808S

c.2422G>T

1 paper

NM_000535.7

p.F807insFs

c.2419dupT

1 paper

NM_000535.7

p.F807_A808delins

c.2421_2422delinsCT

1 paper

NM_000535.7

p.F807delFs

c.2419delA

1 paper

NM_000535.7

p.M806_F807ins13

c.2416_2420ins39

1 paper

NM_000535.7

p.A808fs

c.2422_2423fs

1 paper

NM_000535.7

p.Q805insFs

c.2413dupC

1 paper

NM_000535.7

p.K804_Q805delFs

c.2412_2413delGC

1 paper

NM_000535.7

p.S809A

c.2425T>G

1 paper

NM_000535.7

p.A808delFs

c.2424delG

6 papers

NM_000535.7

p.Q805*

c.2413C>T