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.F272_I273del2

c.814_818del6

Surrounding Variants

1 paper

NM_000535.7

p.S274L

c.821C>T

1 paper

NM_000535.7

p.S274*

c.821C>G

1 paper

NM_000535.7

p.S274insFs

c.821_822insG

1 paper

NM_000535.7

p.S274*

c.821C>A

1 paper

NM_000535.7

p.I273_S274Fs

c.819_821delinsTGFs

1 paper

NM_000535.7

p.S274T

c.820T>A

18 papers

NM_000535.7

p.Q275*

c.823C>T

5 papers

NM_000535.7

p.Q275E

c.823C>G

1 paper

NM_000535.7

p.I273delFs

c.817delT

1 paper

NM_000535.7

p.Q275R

c.824A>G

1 paper

NM_000535.7

p.Y268_Q275delFs

c.804_823del20

1 paper

NM_000535.7

p.Q275H

c.825A>T