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.R315R

c.943C>A

Surrounding Variants

53 papers

NM_000535.7

p.R315*

c.943C>T

1 paper

NM_000535.7

p.N314delFs

c.940delT

6 papers

NM_000535.7

p.R315Q

c.944G>A

1 paper

NM_000535.7

p.Y313insFs

c.938_939dupAT

1 paper

NM_000535.7

p.R315delFs

c.944delC

1 paper

NM_000535.7

p.R315insFs

c.945dupA

1 paper

NM_000535.7

p.N314_R315delFs

c.942_945del4

1 paper

NM_000535.7

p.H316fs

c.946_947fs

2 papers

NM_000535.7

p.Y313insFs

c.939dupT

2 papers

NM_000535.7

p.Y313delFs

c.939delA

1 paper

NM_000535.7

p.Y313*

c.939T>G

1 paper

NM_000535.7

p.Y313*

c.939T>A