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.F788insFs

c.2362dupT

Surrounding Variants

1 paper

NM_000535.7

p.F788F

c.2364C>T

1 paper

NM_000535.7

p.F788delFs

c.2363delA

1 paper

NM_000535.7

p.I787insFs

c.2360_2361dupTC

1 paper

NM_000535.7

p.F788delFs

c.2363_2364delGA

8 papers

NM_000535.7

p.I787_F788delFs

c.2361_2364del4

1 paper

NM_000535.7

p.I787insFs

c.2361dupC

1 paper

NM_000535.7

p.I787delFs

c.2361delG

1 paper

NM_000535.7

p.M789Fs

c.2365_2366delinsTFs

2 papers

NM_000535.7

p.F788fs

c.2362_2363fs

1 paper

NM_000535.7

p.I787M

c.2361C>G

1 paper

NM_000535.7

p.I787fs

c.2359_2360fs

1 paper

NM_000535.7

p.L790fs

c.2368_2369fs