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.E172delFs

c.516delT

Surrounding Variants

1 paper

NM_000535.7

p.F173insFs

c.517_518insA

2 papers

NM_000535.7

p.F173L

c.517T>C

1 paper

NM_000535.7

p.F173fs

c.517_518fs

3 papers

NM_000535.7

p.F173C

c.518T>G

2 papers

NM_000535.7

p.F173S

c.518T>C

1 paper

NM_000535.7

p.E172D

c.516A>C

1 paper

NM_000535.7

p.E172fs

c.514_515fs

3 papers

NM_000535.7

p.E172delFs

c.514delC

1 paper

NM_000535.7

p.E172*

c.514G>T

4 papers

NM_000535.7

p.S164_K171del8

c.490_512del24

3 papers

NM_000535.7

p.Q174*

c.520C>T

1 paper

NM_000535.7

p.Q174E

c.520C>G