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.I768del1

c.2302_2304delAAT

Surrounding Variants

2 papers

NM_000535.7

p.S769Y

c.2306C>A

1 paper

NM_000535.7

p.I768delFs

c.2304delA

1 paper

NM_000535.7

p.K766_L767del2

c.2296_2300del6

1 paper

NM_000535.7

p.S769S

c.2307C>G

1 paper

NM_000535.7

p.L767fs

c.2299_2300fs

1 paper

NM_000535.7

p.L767L

c.2301G>A

1 paper

NM_000535.7

p.L767delFs

c.2299delG

1 paper

NM_000535.7

p.K766insFs

c.2296dupA

2 papers

NM_000535.7

p.K766delFs

c.2297delT

1 paper

NM_000535.7

p.K766delFs

c.2296_2297delTT

1 paper

NM_000535.7

p.P771Q

c.2312C>A

1 paper

NM_000535.7

p.L770_P771delFs

c.2308_2311del4