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.P840_W841insFs

c.2520_2521insC

Surrounding Variants

1 paper

NM_000535.7

p.P840_W841Fs

c.2520_2521delinsTFs

10 papers

NM_000535.7

p.W841fs

c.2521_2522fs

13 papers

NM_000535.7

p.W841*

c.2522G>A

14 papers

NM_000535.7

p.W841delFs

c.2521delA

1 paper

NM_000535.7

p.P840_W841insFs

c.2520_2521insA

3 papers

NM_000535.7

p.W841fs

c.2521_2522fs

13 papers

NM_000535.7

p.W841*

c.2523G>A

1 paper

NM_000535.7

p.P840H

c.2519C>A

1 paper

NM_000535.7

p.W841insFs

c.2523dupG

1 paper

NM_000535.7

p.H839Q

c.2517C>G

1 paper

NM_000535.7

p.H839Q

c.2517C>A

4 papers

NM_000535.7

p.H839R

c.2516A>G