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.N307_E308insFs

c.921_922dupTG

Surrounding Variants

1 paper

NM_000535.7

p.E308G

c.923A>G

1 paper

NM_000535.7

p.E308A

c.923A>C

1 paper

NM_000535.7

p.L305_E308insFs

c.915_922dup8

4 papers

NM_000535.7

p.E308D

c.924G>T

6 papers

NM_000535.7

p.E308D

c.924G>C

2 papers

NM_000535.7

p.E308Q

c.922G>C

1 paper

NM_000535.7

p.E308E

c.924G>A

1 paper

NM_000535.7

p.E308fs

c.922_923fs

1 paper

NM_000535.7

p.L305_E308delFs

c.914_923del10

1 paper

NM_000535.7

p.N307insFs

c.920dupA

2 papers

NM_000535.7

p.N307K

c.921T>G

2 papers

NM_000535.7

p.N307K

c.921T>A