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.A51insFs

c.153dupC

Surrounding Variants

1 paper

NM_000535.7

p.T52S

c.154A>T

1 paper

NM_000535.7

p.T52A

c.154A>G

1 paper

NM_000535.7

p.T52insFs

c.154_155insG

1 paper

NM_000535.7

p.G50_A51delFs

c.150_153del4

1 paper

NM_000535.7

p.T52I

c.155C>T

1 paper

NM_000535.7

p.A51A

c.153C>G

1 paper

NM_000535.7

p.L47_T52delFs

c.141_154del14

1 paper

NM_000535.7

p.T52T

c.156T>C

3 papers

NM_000535.7

p.T52T

c.156T>A

1 paper

NM_000535.7

p.N45_T52delFs

c.135_154del20

1 paper

NM_000535.7

p.G50insFs

c.150dupT

1 paper

NM_000535.7

p.A51Fs

c.151delinsAACFs