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.T558delFs

c.1673delG

Surrounding Variants

4 papers

NM_000535.7

p.G559R

c.1675G>C

5 papers

NM_000535.7

p.G559R

c.1675G>A

1 paper

NM_000535.7

p.D557_T558delFs

c.1671_1674del4

2 papers

NM_000535.7

p.T558T

c.1674C>T

1 paper

NM_000535.7

p.T558I

c.1673C>T

2 papers

NM_000535.7

p.T558S

c.1673C>G

1 paper

NM_000535.7

p.T558delFs

c.1672delT

1 paper

NM_000535.7

p.E556_T558delFs

c.1666_1672del7

1 paper

NM_000535.7

p.G559insFs

c.1675_1676dupGG

1 paper

NM_000535.7

p.G559delFs

c.1676delC

1 paper

NM_000535.7

p.T558fs

c.1672_1673fs

1 paper

NM_000535.7

p.T558S

c.1672A>T