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.D391fs

c.1171_1172fs

Surrounding Variants

1 paper

NM_000535.7

p.D391Y

c.1171G>T

4 papers

NM_000535.7

p.A390A

c.1170G>A

1 paper

NM_000535.7

p.A390Fs

c.1168_1170delinsAAFs

9 papers

NM_000535.7

p.A390V

c.1169C>T

2 papers

NM_000535.7

p.A390G

c.1169C>G

1 paper

NM_000535.7

p.A390insFs

c.1168dupG

4 papers

NM_000535.7

p.A390insFs

c.1169_1170ins20

1 paper

NM_000535.7

p.A390E

c.1169C>A

1 paper

NM_000535.7

p.A390delFs

c.1168delC

1 paper

NM_000535.7

p.A390S

c.1168G>T

3 papers

NM_000535.7

p.H388_A389del2

c.1162_1166del6

1 paper

NM_000535.7

p.K386_A389delFs

c.1158_1167del10