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.I724M

c.2172A>G

Surrounding Variants

2 papers

NM_000535.7

p.G720_I724insFs

c.2159_2171dup13

1 paper

NM_000535.7

p.I724fs

c.2170_2171fs

1 paper

NM_000535.7

p.I724insFs

c.2171_2172ins13

4 papers

NM_000535.7

p.A725T

c.2173G>A

3 papers

NM_000535.7

p.A725V

c.2174C>T

3 papers

NM_000535.7

p.I724fs

c.2170_2171fs

1 paper

NM_000535.7

p.L723delFs

c.2167_2168delAG

1 paper

NM_000535.7

p.R722_L723delFs

c.2165_2169del5

1 paper

NM_000535.7

p.A725Splc

c.2174+1G>C

38 papers

NM_000535.7

p.A725Splc

c.2174+1G>A

1 paper

NM_000535.7

p.L723L

c.2169C>G

1 paper

NM_000535.7

p.L723L

c.2169C>A