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.P617insFs

c.1850dupC

Surrounding Variants

1 paper

NM_000535.7

p.P617insFs

c.1850_1851dupCC

1 paper

NM_000535.7

p.L618P

c.1853T>C

2 papers

NM_000535.7

p.L618delins

c.1852_1853delinsGC

1 paper

NM_000535.7

p.L618insFs

c.1853dupT

1 paper

NM_000535.7

p.L618Fs

c.1853delinsTTCTTFs

1 paper

NM_000535.7

p.L618L

c.1854G>A

1 paper

NM_000535.7

p.L618delFs

c.1853delA

1 paper

NM_000535.7

p.N612_L618del0

c.1836_1853del18

2 papers

NM_000535.7

p.D619Y

c.1855G>T

1 paper

NM_000535.7

p.D619H

c.1855G>C

4 papers

NM_000535.7

p.D619N

c.1855G>A

3 papers

NM_000535.7

p.L618del1

c.1852_1854delCAG