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.E41V

c.122A>T

Surrounding Variants

3 papers

NM_000535.7

p.E41G

c.122A>G

8 papers

NM_000535.7

p.E41A

c.122A>C

7 papers

NM_000535.7

p.E41*

c.121G>T

1 paper

NM_000535.7

p.K40_E41insFs

c.119_122dup4

3 papers

NM_000535.7

p.E41Q

c.121G>C

5 papers

NM_000535.7

p.E41K

c.121G>A

3 papers

NM_000535.7

p.L42I

c.124T>A

1 paper

NM_000535.7

p.K40insFs

c.119dupA

1 paper

NM_000535.7

p.K40K

c.120G>A

1 paper

NM_000535.7

p.K40delFs

c.119delT

1 paper

NM_000535.7

p.L42fs

c.124_125fs

2 papers

NM_000535.7

p.L42*

c.125T>G