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.I385R

c.1154T>G

Surrounding Variants

1 paper

NM_000535.7

p.I385T

c.1154T>C

1 paper

NM_000535.7

p.I385L

c.1153A>C

2 papers

NM_000535.7

p.I385delFs

c.1154delA

1 paper

NM_000535.7

p.L384F

c.1152A>T

3 papers

NM_000535.7

p.K386Q

c.1156A>C

1 paper

NM_000535.7

p.L384F

c.1152A>C

1 paper

NM_000535.7

p.L384insFs

c.1151dupT

1 paper

NM_000535.7

p.L384delFs

c.1150delA

1 paper

NM_000535.7

p.L384delFs

c.1150_1151delAA

1 paper

NM_000535.7

p.L384*

c.1151T>G

6 papers

NM_000535.7

p.L384*

c.1151T>A

2 papers

NM_000535.7

p.I385del1

c.1153_1155delTAT