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.K394delFs

c.1182delC

Surrounding Variants

1 paper

NM_000535.7

p.P395S

c.1183C>T

1 paper

NM_000535.7

p.L392_E393Fs

c.1176_1178delinsGGAAFs

1 paper

NM_000535.7

p.E393_K394insFs

c.1179_1180dupAA

1 paper

NM_000535.7

p.K394delFs

c.1181delT

1 paper

NM_000535.7

p.K394T

c.1181A>C

2 papers

NM_000535.7

p.M396fs

c.1186_1187fs

2 papers

NM_000535.7

p.K394fs

c.1180_1181fs

2 papers

NM_000535.7

p.P395delFs

c.1185delG

1 paper

NM_000535.7

p.M396insFs

c.1187_1188ins7

1 paper

NM_000535.7

p.P395_M396delFs

c.1185_1186delTG

1 paper

NM_000535.7

p.P395_M396delFs

c.1183_1186del4

1 paper

NM_000535.7

p.K394_P395del2

c.1180_1184del6