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.V616del1

c.1846_1848delCAC

Surrounding Variants

3 papers

NM_000535.7

p.P617S

c.1849C>T

1 paper

NM_000535.7

p.P617_L618insA

c.1849_1853ins3

1 paper

NM_000535.7

p.N612_V616Fs

c.1834_1847delinsTFs

1 paper

NM_000535.7

p.I611_V616delFs

c.1831_1846del16

1 paper

NM_000535.7

p.P617P

c.1851C>T

1 paper

NM_000535.7

p.N612_V615del4

c.1834_1844del12

1 paper

NM_000535.7

p.P617insFs

c.1850dupC

1 paper

NM_000535.7

p.P617insFs

c.1850_1851dupCC

1 paper

NM_000535.7

p.L618P

c.1853T>C

1 paper

NM_000535.7

p.V615delFs

c.1843_1844delAC

2 papers

NM_000535.7

p.L618delins

c.1852_1853delinsGC

1 paper

NM_000535.7

p.V615A

c.1844T>C