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.E667fs

c.1999_2000fs

Surrounding Variants

2 papers

NM_000535.7

p.E667*

c.1999G>T

6 papers

NM_000535.7

p.E667K

c.1999G>A

4 papers

NM_000535.7

p.K666delFs

c.1997_1998delTT

1 paper

NM_000535.7

p.K666fs

c.1996_1997fs

1 paper

NM_000535.7

p.E667insFs

c.2000dupA

2 papers

NM_000535.7

p.K666R

c.1997A>G

1 paper

NM_000535.7

p.K666T

c.1997A>C

15 papers

NM_000535.7

p.I668V

c.2002A>G

1 paper

NM_000535.7

p.R665delFs

c.1994_1995delTC

2 papers

NM_000535.7

p.K666fs

c.1996_1997fs

1 paper

NM_000535.7

p.I668T

c.2003T>C

1 paper

NM_000535.7

p.E667_I668delFs

c.2001_2002delTC