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.I143fs

c.427_428fs

Surrounding Variants

1 paper

NM_000535.7

p.I143V

c.427A>G

1 paper

NM_000535.7

p.I143insFs

c.427dupA

2 papers

NM_000535.7

p.I143T

c.428T>C

1 paper

NM_000535.7

p.I143delFs

c.427delT

2 papers

NM_000535.7

p.I143I

c.429T>C

1 paper

NM_000535.7

p.I144F

c.430A>T

1 paper

NM_000535.7

p.I143insFs

c.428dupT

1 paper

NM_000535.7

p.I144_Q145ins5

c.430_434ins15

2 papers

NM_000535.7

p.G141delFs

c.423delC

1 paper

NM_000535.7

p.G141delFs

c.421_422delCC

2 papers

NM_000535.7

p.I144T

c.431T>C

1 paper

NM_000535.7

p.I144N

c.431T>A