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

5 papers

NM_000535.7

p.R151delFs

c.451delG

Surrounding Variants

2 papers

NM_000535.7

p.R151insFs

c.451dupC

1 paper

NM_000535.7

p.P150_R151insFs

c.448_451dup4

1 paper

NM_000535.7

p.R151P

c.452G>C

9 papers

NM_000535.7

p.R151H

c.452G>A

2 papers

NM_000535.7

p.R151C

c.451C>T

2 papers

NM_000535.7

p.R151fs

c.451_452fs

2 papers

NM_000535.7

p.R151S

c.451C>A

2 papers

NM_000535.7

p.R151delFs

c.452delC

6 papers

NM_000535.7

p.R151fs

c.451_452fs

1 paper

NM_000535.7

p.P150L

c.449C>T

1 paper

NM_000535.7

p.P152P

c.456C>G

1 paper

NM_000535.7

p.Y149*

c.447C>G