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.F696_I697del2

c.2086_2090del6

Surrounding Variants

1 paper

NM_000535.7

p.V698insFs

c.2092dupG

2 papers

NM_000535.7

p.V698delFs

c.2092delC

2 papers

NM_000535.7

p.I697insFs

c.2089dupA

2 papers

NM_000535.7

p.I697delFs

c.2089delT

1 paper

NM_000535.7

p.F696_V698delFs

c.2087_2093del7

3 papers

NM_000535.7

p.D699Y

c.2095G>T

1 paper

NM_000535.7

p.V698insFs

c.2093_2094dupTG

15 papers

NM_000535.7

p.D699H

c.2095G>C

10 papers

NM_000535.7

p.D699N

c.2095G>A

1 paper

NM_000535.7

p.V698delFs

c.2092_2093delAC

2 papers

NM_000535.7

p.I697_V698del2

c.2089_2093del6

1 paper

NM_000535.7

p.I697V

c.2089A>G