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

2 papers

NM_000535.7

p.K171insFs

c.511_512insC

Surrounding Variants

1 paper

NM_000535.7

p.H170insFs

c.510dupT

1 paper

NM_000535.7

p.H170delFs

c.510delA

1 paper

NM_000535.7

p.H170delFs

c.509delT

1 paper

NM_000535.7

p.R169_H170delFs

c.506_509del4

1 paper

NM_000535.7

p.H170delFs

c.509_510delAT

2 papers

NM_000535.7

p.K171fs

c.511_512fs

1 paper

NM_000535.7

p.H170insFs

c.508_509ins4

1 paper

NM_000535.7

p.H170fs

c.508_509fs

1 paper

NM_000535.7

p.E172*

c.514G>T

4 papers

NM_000535.7

p.S164_K171del8

c.490_512del24

2 papers

NM_000535.7

p.H170Y

c.508C>T

2 papers

NM_000535.7

p.H170D

c.508C>G