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.L35_A38delFs

c.103_113del11

Surrounding Variants

1 paper

NM_000535.7

p.S36_A38ins1

c.108_113dup6

2 papers

NM_000535.7

p.A38A

c.114G>A

1 paper

NM_000535.7

p.V39L

c.115G>T

1 paper

NM_000535.7

p.V39_K40insGGC

c.115_119ins9

1 paper

NM_000535.7

p.V39L

c.115G>C

2 papers

NM_000535.7

p.V39I

c.115G>A

9 papers

NM_000535.7

p.A38V

c.113C>T

1 paper

NM_000535.7

p.V39fs

c.115_116fs

1 paper

NM_000535.7

p.V39delFs

c.115delC

1 paper

NM_000535.7

p.A38_V39insG

c.112_116ins3

1 paper

NM_000535.7

p.A38_V39ins4

c.112_116ins12

2 papers

NM_000535.7

p.A38T

c.112G>A