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.V43_E44insFs

c.128_131dup4

Surrounding Variants

1 paper

NM_000535.7

p.E44fs

c.130_131fs

1 paper

NM_000535.7

p.E44delins

c.131_132delinsTT

3 papers

NM_000535.7

p.E41_E44del0

c.123_131del9

2 papers

NM_000535.7

p.N45fs

c.133_134fs

1 paper

NM_000535.7

p.E44V

c.131A>T

2 papers

NM_000535.7

p.E44G

c.131A>G

1 paper

NM_000535.7

p.N45D

c.133A>G

1 paper

NM_000535.7

p.L42_E44insFs

c.125_132dup8

1 paper

NM_000535.7

p.E44delins

c.130_131delinsCT

3 papers

NM_000535.7

p.V43del1

c.127_128delTAC

1 paper

NM_000535.7

p.E41_E44del4

c.121_131del12

1 paper

NM_000535.7

p.E44*

c.130G>T