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.A129fs

c.385_386fs

Surrounding Variants

1 paper

NM_000535.7

p.A129S

c.385G>T

6 papers

NM_000535.7

p.S128S

c.384G>A

1 paper

NM_000535.7

p.A129Fs

c.385_386delinsGTTFs

5 papers

NM_000535.7

p.A129A

c.387G>A

16 papers

NM_000535.7

p.S128L

c.383C>T

2 papers

NM_000535.7

p.S128W

c.383C>G

1 paper

NM_000535.7

p.S128insFs

c.383_384ins19

2 papers

NM_000535.7

p.S128*

c.383C>A

1 paper

NM_000535.7

p.S128delFs

c.382delA

1 paper

NM_000535.7

p.S128A

c.382T>G

1 paper

NM_000535.7

p.A127delFs

c.380_381delTG

1 paper

NM_000535.7

p.C125_S128Fs

c.374_382delinsTFs