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

14 papers

NM_000535.7

p.G29A

c.86G>C

Surrounding Variants

1 paper

NM_000535.7

p.S28_G29delFs

c.84_85delCA

2 papers

NM_000535.7

p.G29W

c.85G>T

1 paper

NM_000535.7

p.G29G

c.87G>A

1 paper

NM_000535.7

p.S28delFs

c.84delA

1 paper

NM_000535.7

p.I15_S28del14

c.43_83del42

1 paper

NM_000535.7

p.C27_S28delFs

c.80_83del4

5 papers

NM_000535.7

p.Q30*

c.88C>T

1 paper

NM_000535.7

p.Q30E

c.88C>G

1 paper

NM_000535.7

p.Q30_V31insGGA

c.88_92ins9

5 papers

NM_000535.7

p.Q30K

c.88C>A

1 paper

NM_000535.7

p.I26_G29del4

c.76_86del12

6 papers

NM_000535.7

p.S28F

c.83C>T