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.L625L

c.1875A>G

Surrounding Variants

1 paper

NM_000535.7

p.L625insFs

c.1873dupT

5 papers

NM_000535.7

p.L625delFs

c.1874delA

6 papers

NM_000535.7

p.L625*

c.1874T>G

6 papers

NM_000535.7

p.L625*

c.1874T>A

1 paper

NM_000535.7

p.A626S

c.1876G>T

1 paper

NM_000535.7

p.A626P

c.1876G>C

1 paper

NM_000535.7

p.L625V

c.1873T>G

1 paper

NM_000535.7

p.L625_A626Fs

c.1874_1877delinsAGGFs

2 papers

NM_000535.7

p.L625fs

c.1873_1874fs

1 paper

NM_000535.7

p.S624S

c.1872T>G

1 paper

NM_000535.7

p.S624S

c.1872T>C

2 papers

NM_000535.7

p.A626A

c.1878T>A