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.A702T

c.2104G>A

Surrounding Variants

1 paper

NM_000535.7

p.A702_T703insT

c.2104_2108ins3

1 paper

NM_000535.7

p.H701insFs

c.2102dupA

1 paper

NM_000535.7

p.H701Q

c.2103T>G

1 paper

NM_000535.7

p.H701Q

c.2103T>A

1 paper

NM_000535.7

p.Q700_H701delFs

c.2099_2102del4

1 paper

NM_000535.7

p.A702V

c.2105C>T

1 paper

NM_000535.7

p.A702G

c.2105C>G

2 papers

NM_000535.7

p.A702D

c.2105C>A

1 paper

NM_000535.7

p.H701R

c.2102A>G

1 paper

NM_000535.7

p.H701Y

c.2101C>T

3 papers

NM_000535.7

p.H701N

c.2101C>A

1 paper

NM_000535.7

p.Q700delFs

c.2100delC