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.T576I

c.1727C>T

Surrounding Variants

1 paper

NM_000535.7

p.N575insFs

c.1725dupC

1 paper

NM_000535.7

p.N575delFs

c.1725delG

1 paper

NM_000535.7

p.P574_N575del2

c.1720_1724del6

2 papers

NM_000535.7

p.K577E

c.1729A>G

2 papers

NM_000535.7

p.N575S

c.1724A>G

1 paper

NM_000535.7

p.K577N

c.1731G>T

1 paper

NM_000535.7

p.K577fs

c.1729_1730fs

12 papers

NM_000535.7

p.K577insFs

c.1730dupA

1 paper

NM_000535.7

p.K577N

c.1731G>C

2 papers

NM_000535.7

p.K577K

c.1731G>A

2 papers

NM_000535.7

p.N575D

c.1723A>G

3 papers

NM_000535.7

p.R578fs

c.1732_1733fs