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

2 papers

NM_000535.7

p.K627N

c.1881A>C

Surrounding Variants

2 papers

NM_000535.7

p.K627N

c.1881A>T

51 papers

NM_000535.7

p.R628*

c.1882C>T

1 paper

NM_000535.7

p.A626_K627delFs

c.1878_1881del4

4 papers

NM_000535.7

p.R628Q

c.1883G>A

1 paper

NM_000535.7

p.A626delFs

c.1878delA

2 papers

NM_000535.7

p.L625_A626delFs

c.1874_1878del5

1 paper

NM_000535.7

p.K627fs

c.1879_1880fs

2 papers

NM_000535.7

p.A626A

c.1878T>A

1 paper

NM_000535.7

p.A626delFs

c.1877delG

1 paper

NM_000535.7

p.R628R

c.1884A>G

1 paper

NM_000535.7

p.R628delFs

c.1883delC

1 paper

NM_000535.7

p.A626_R628delFs

c.1877_1883del7