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

2 papers

NM_000535.7

p.S46S

c.138T>C

Surrounding Variants

1 paper

NM_000535.7

p.S46R

c.138T>G

1 paper

NM_000535.7

p.S46R

c.138T>A

171 papers

NM_000535.7

p.S46I

c.137G>T

22 papers

NM_000535.7

p.S46N

c.137G>A

1 paper

NM_000535.7

p.L47fs

c.139_140fs

1 paper

NM_000535.7

p.N45_S46delFs

c.135_136delTG

5 papers

NM_000535.7

p.L47L

c.139C>T

5 papers

NM_000535.7

p.L47V

c.139C>G

1 paper

NM_000535.7

p.S46delFs

c.138delA

1 paper

NM_000535.7

p.S34_S46del13

c.100_137del39

1 paper

NM_000535.7

p.S46C

c.136A>T

1 paper

NM_000535.7

p.S46R

c.136A>C