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.A854delFs

c.2562delG

Surrounding Variants

1 paper

NM_000535.7

p.N855I

c.2564A>T

1 paper

NM_000535.7

p.N855S

c.2564A>G

1 paper

NM_000535.7

p.N855T

c.2564A>C

1 paper

NM_000535.7

p.L856_G857insT

c.2566_2570ins3

2 papers

NM_000535.7

p.L856R

c.2567T>G

2 papers

NM_000535.7

p.I853I

c.2559C>T

4 papers

NM_000535.7

p.I853M

c.2559C>G

1 paper

NM_000535.7

p.G857insFs

c.2570_2571insC

46 papers

NM_000535.7

p.G857A

c.2570G>C

2 papers

NM_000535.7

p.G857D

c.2570G>A

1 paper

NM_000535.7

p.H852insFs

c.2554dupC

1 paper

NM_000535.7

p.V858F

c.2572G>T