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

60 papers

NM_000535.7

p.K541E

c.1621A>G

Surrounding Variants

1 paper

NM_000535.7

p.K541*

c.1621A>T

1 paper

NM_000535.7

p.K541Q

c.1621A>C

1 paper

NM_000535.7

p.P540delFs

c.1619_1620delAG

4 papers

NM_000535.7

p.K541fs

c.1621_1622fs

4 papers

NM_000535.7

p.P540_K541insFs

c.1620_1621insG

1 paper

NM_000535.7

p.P540delFs

c.1618delG

1 paper

NM_000535.7

p.A539_P540delFs

c.1616_1619del4

1 paper

NM_000535.7

p.K541R

c.1622A>G

1 paper

NM_000535.7

p.P540_K541delFs

c.1620_1621delTA

2 papers

NM_000535.7

p.K541fs

c.1621_1622fs

2 papers

NM_000535.7

p.P540S

c.1618C>T

2 papers

NM_000535.7

p.T542P

c.1624A>C