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.I678T

c.2033T>C

Surrounding Variants

1 paper

NM_000535.7

p.E677insFs

c.2030dupA

1 paper

NM_000535.7

p.I678delFs

c.2032delT

1 paper

NM_000535.7

p.M676_I678del0

c.2028_2033del6

1 paper

NM_000535.7

p.I678F

c.2032A>T

1 paper

NM_000535.7

p.I679fs

c.2035_2036fs

1 paper

NM_000535.7

p.I679F

c.2035A>T

4 papers

NM_000535.7

p.I679T

c.2036T>C

1 paper

NM_000535.7

p.M676delFs

c.2028delC

1 paper

NM_000535.7

p.M676_E677delFs

c.2028_2029delCC

1 paper

NM_000535.7

p.I679delFs

c.2035_2036delAT

1 paper

NM_000535.7

p.E677*

c.2029G>T

1 paper

NM_000535.7

p.E677K

c.2029G>A