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.H552_Q555del4

c.1654_1664del12

Surrounding Variants

1 paper

NM_000535.7

p.E556*

c.1666G>T

1 paper

NM_000535.7

p.E556fs

c.1666_1667fs

1 paper

NM_000535.7

p.Q555insFs

c.1664_1665ins4

1 paper

NM_000535.7

p.Q555delFs

c.1664delT

1 paper

NM_000535.7

p.E556A

c.1667A>C

2 papers

NM_000535.7

p.E556delFs

c.1666delC

1 paper

NM_000535.7

p.D557Y

c.1669G>T

3 papers

NM_000535.7

p.E556insFs

c.1667_1668insA

1 paper

NM_000535.7

p.E556delFs

c.1668delT

2 papers

NM_000535.7

p.Q555*

c.1663C>T

1 paper

NM_000535.7

p.N554del1

c.1660_1661delGTT

1 paper

NM_000535.7

p.N554fs

c.1660_1661fs