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.S815S

c.2445G>A

Surrounding Variants

1 paper

NM_000535.7

p.S815delFs

c.2444delG

15 papers

NM_000535.7

p.S815_V816Splc

c.2445+1G>T

1 paper

NM_000535.7

p.S815_V816Splc

c.2445+1G>C

1 paper

NM_000535.7

p.S815_V816Splc

c.2445+1G>A

42 papers

NM_000535.7

p.S815L

c.2444C>T

1 paper

NM_000535.7

p.S815W

c.2444C>G

1 paper

NM_000535.7

p.S815insFs

c.2444_2445insTT

1 paper

NM_000535.7

p.S815A

c.2443T>G

1 paper

NM_000535.7

p.S815P

c.2443T>C

1 paper

NM_000535.7

p.A811_S815del5

c.2431_2444del15

1 paper

NM_000535.7

p.R810_K814delFs

c.2430_2440del11

1 paper

NM_000535.7

p.A811_K814del4

c.2431_2441del12