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.I695insFs

c.2085dupC

Surrounding Variants

1 paper

NM_000535.7

p.I695N

c.2084T>A

1 paper

NM_000535.7

p.I697V

c.2089A>G

1 paper

NM_000535.7

p.D694delFs

c.2082delA

1 paper

NM_000535.7

p.D694del1

c.2080_2081delATC

1 paper

NM_000535.7

p.L691_D694del4

c.2071_2081del12

2 papers

NM_000535.7

p.I697insFs

c.2089dupA

2 papers

NM_000535.7

p.I697delFs

c.2089delT

1 paper

NM_000535.7

p.N692_D694delFs

c.2074_2081del8

1 paper

NM_000535.7

p.D694V

c.2081A>T

1 paper

NM_000535.7

p.E693insFs

c.2079dupG

1 paper

NM_000535.7

p.E693delFs

c.2079delC

2 papers

NM_000535.7

p.D694Y

c.2080G>T