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.R578R

c.1734T>C

Surrounding Variants

2 papers

NM_000535.7

p.R578fs

c.1732_1733fs

1 paper

NM_000535.7

p.F579fs

c.1735_1736fs

1 paper

NM_000535.7

p.R578P

c.1733G>C

2 papers

NM_000535.7

p.R578H

c.1733G>A

1 paper

NM_000535.7

p.F579insFs

c.1736_1737insGT

1 paper

NM_000535.7

p.F579C

c.1736T>G

3 papers

NM_000535.7

p.R578fs

c.1732_1733fs

14 papers

NM_000535.7

p.R578C

c.1732C>T

3 papers

NM_000535.7

p.K577_R578Fs

c.1731_1732delinsAGTFs

1 paper

NM_000535.7

p.F579_K580insFs

c.1737_1738insA

1 paper

NM_000535.7

p.K577N

c.1731G>T

1 paper

NM_000535.7

p.K577fs

c.1729_1730fs