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

13 papers

NM_000535.7

p.Y519C

c.1556A>G

Surrounding Variants

1 paper

NM_000535.7

p.E518insFs

c.1554dupG

1 paper

NM_000535.7

p.Y519fs

c.1555_1556fs

1 paper

NM_000535.7

p.Y519*

c.1557T>G

3 papers

NM_000535.7

p.Y519H

c.1555T>C

1 paper

NM_000535.7

p.Y519Y

c.1557T>C

1 paper

NM_000535.7

p.Y519*

c.1557T>A

1 paper

NM_000535.7

p.E518delFs

c.1552_1553delTC

1 paper

NM_000535.7

p.Y519delFs

c.1556delT

1 paper

NM_000535.7

p.Y519_A520insFs

c.1557_1558insT

1 paper

NM_000535.7

p.A520T

c.1558G>A

1 paper

NM_000535.7

p.Y519delFs

c.1557delA

1 paper

NM_000535.7

p.A520fs

c.1558_1559fs