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

8 papers

NM_000535.7

p.M1L

c.1A>C

Surrounding Variants

16 papers

NM_000535.7

p.M1L

c.1A>T

52 papers

NM_000535.7

p.M1V

c.1A>G

1 paper

NM_000535.7

p.M1Fs

c.1delinsCCFs

1 paper

NM_000535.7

p.M1insFs

c.1_2insT

2 papers

NM_000535.7

p.M1Fs

c.1delinsCAFs

1 paper

NM_000535.7

p.M1insFs

c.2_3ins4

1 paper

NM_000535.7

p.M1delins

c.1delinsACAC

3 papers

NM_000535.7

p.M1insFs

c.1dupA

5 papers

NM_000535.7

p.M1R

c.2T>G

1 paper

NM_000535.7

p.M1Fs

c.2delinsACGFs

16 papers

NM_000535.7

p.M1T

c.2T>C

26 papers

NM_000535.7

p.M1K

c.2T>A