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

3 papers

NM_000535.7

p.L585P

c.1754T>C

Surrounding Variants

1 paper

NM_000535.7

p.L585delFs

c.1753delG

1 paper

NM_000535.7

p.K580_L585delFs

c.1740_1753del14

1 paper

NM_000535.7

p.L585L

c.1755T>C

1 paper

NM_000535.7

p.L585F

c.1753C>T

8 papers

NM_000535.7

p.L585I

c.1753C>A

1 paper

NM_000535.7

p.I584delFs

c.1751delA

1 paper

NM_000535.7

p.I584insFs

c.1750dupA

1 paper

NM_000535.7

p.E583delFs

c.1749delT

1 paper

NM_000535.7

p.E583delFs

c.1748_1749delTT

2 papers

NM_000535.7

p.S586C

c.1757C>G

1 paper

NM_000535.7

p.I584fs

c.1750_1751fs

1 paper

NM_000535.7

p.S586S

c.1758C>T