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

4 papers

NM_000535.7

p.D792N

c.2374G>A

Surrounding Variants

1 paper

NM_000535.7

p.S791S

c.2373C>T

1 paper

NM_000535.7

p.S791insFs

c.2371_2372ins4

1 paper

NM_000535.7

p.S791delFs

c.2371delT

1 paper

NM_000535.7

p.S793R

c.2377A>C

1 paper

NM_000535.7

p.L790delFs

c.2369delA

1 paper

NM_000535.7

p.S793R

c.2379C>G

1 paper

NM_000535.7

p.S793R

c.2379C>A

1 paper

NM_000535.7

p.D792_S793delFs

c.2375_2378del4

1 paper

NM_000535.7

p.L790fs

c.2368_2369fs

7 papers

NM_000535.7

p.P794S

c.2380C>T

1 paper

NM_000535.7

p.M789delFs

c.2367delC

1 paper

NM_000535.7

p.F788_M789del2

c.2362_2366del6