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.Q805insFs

c.2413dupC

Surrounding Variants

1 paper

NM_000535.7

p.K804_Q805delFs

c.2412_2413delGC

6 papers

NM_000535.7

p.Q805*

c.2413C>T

1 paper

NM_000535.7

p.M806_F807ins13

c.2416_2420ins39

1 paper

NM_000535.7

p.K804R

c.2411A>G

1 paper

NM_000535.7

p.K804T

c.2411A>C

1 paper

NM_000535.7

p.K804fs

c.2410_2411fs

1 paper

NM_000535.7

p.K804*

c.2410A>T

1 paper

NM_000535.7

p.V803delFs

c.2408_2409delGA

1 paper

NM_000535.7

p.M806insFs

c.2418dupG

1 paper

NM_000535.7

p.R802delFs

c.2405_2406delTC

1 paper

NM_000535.7

p.F807L

c.2421T>A

1 paper

NM_000535.7

p.V803F

c.2407G>T