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.R421_E422del2

c.1261_1265del6

Surrounding Variants

1 paper

NM_000535.7

p.A423P

c.1267G>C

2 papers

NM_000535.7

p.A423T

c.1267G>A

1 paper

NM_000535.7

p.E422E

c.1266G>A

1 paper

NM_000535.7

p.E422delFs

c.1265delT

1 paper

NM_000535.7

p.A423V

c.1268C>T

7 papers

NM_000535.7

p.A423G

c.1268C>G

1 paper

NM_000535.7

p.A423D

c.1268C>A

1 paper

NM_000535.7

p.E422delFs

c.1266delC

1 paper

NM_000535.7

p.I417_A423Fs

c.1251_1268delinsAGTTFs

1 paper

NM_000535.7

p.A423A

c.1269C>T

1 paper

NM_000535.7

p.E422_A423Fs

c.1265_1269delinsGAAAAGFs

1 paper

NM_000535.7

p.R419_A423delFs

c.1255_1268del14