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

4 papers

NM_000535.7

p.V717fs

c.2149_2150fs

Surrounding Variants

4 papers

NM_000535.7

p.T716insFs

c.2148dupC

28 papers

NM_000535.7

p.V717M

c.2149G>A

1 paper

NM_000535.7

p.T716delFs

c.2148delG

1 paper

NM_000535.7

p.T716delFs

c.2147_2148delGG

1 paper

NM_000535.7

p.V717delFs

c.2149delC

1 paper

NM_000535.7

p.T716_V717delFs

c.2148_2149delCG

1 paper

NM_000535.7

p.E710_T716del7

c.2128_2147del21

3 papers

NM_000535.7

p.T716T

c.2148C>T

1 paper

NM_000535.7

p.V717fs

c.2149_2150fs

1 paper

NM_000535.7

p.T716S

c.2147C>G

4 papers

NM_000535.7

p.L718F

c.2152C>T

1 paper

NM_000535.7

p.L718V

c.2152C>G