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

4 papers

NM_000535.7

p.L454P

c.1361T>C

Surrounding Variants

1 paper

NM_000535.7

p.L454L

c.1360C>T

1 paper

NM_000535.7

p.L454_S455insC

c.1360_1364ins3

1 paper

NM_000535.7

p.L454insFs

c.1362dupG

1 paper

NM_000535.7

p.L454delFs

c.1362delC

2 papers

NM_000535.7

p.M453insFs

c.1358dupT

1 paper

NM_000535.7

p.M453R

c.1358T>G

1 paper

NM_000535.7

p.M453T

c.1358T>C

1 paper

NM_000535.7

p.M453K

c.1358T>A

4 papers

NM_000535.7

p.S455F

c.1364C>T

1 paper

NM_000535.7

p.S455C

c.1364C>G

1 paper

NM_000535.7

p.M453fs

c.1357_1358fs

1 paper

NM_000535.7

p.M453L

c.1357A>T