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.D589delFs

c.1767delG

Surrounding Variants

2 papers

NM_000535.7

p.I590fs

c.1768_1769fs

3 papers

NM_000535.7

p.I590V

c.1768A>G

2 papers

NM_000535.7

p.I590S

c.1769T>G

8 papers

NM_000535.7

p.I590delFs

c.1768delT

1 paper

NM_000535.7

p.D589D

c.1767C>T

1 paper

NM_000535.7

p.D589G

c.1766A>G

1 paper

NM_000535.7

p.C591insFs

c.1771_1772insA

2 papers

NM_000535.7

p.C591R

c.1771T>C

2 papers

NM_000535.7

p.D589H

c.1765G>C

1 paper

NM_000535.7

p.S588delFs

c.1764delA

1 paper

NM_000535.7

p.S588delFs

c.1763_1764delAG

1 paper

NM_000535.7

p.S588S

c.1764T>G