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.H170_K171ins9

c.508_512ins27

Surrounding Variants

1 paper

NM_000535.7

p.H170fs

c.508_509fs

2 papers

NM_000535.7

p.H170Y

c.508C>T

2 papers

NM_000535.7

p.H170D

c.508C>G

1 paper

NM_000535.7

p.H170insFs

c.508_509ins4

1 paper

NM_000535.7

p.H170delFs

c.509delT

1 paper

NM_000535.7

p.R169_H170delFs

c.506_509del4

6 papers

NM_000535.7

p.R169H

c.506G>A

1 paper

NM_000535.7

p.R169C

c.505C>T

1 paper

NM_000535.7

p.R169G

c.505C>G

1 paper

NM_000535.7

p.R169S

c.505C>A

1 paper

NM_000535.7

p.V168delFs

c.502_503delAC

1 paper

NM_000535.7

p.H170insFs

c.510dupT