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

16 papers

NM_000535.7

p.V415M

c.1243G>A

Surrounding Variants

4 papers

NM_000535.7

p.D414D

c.1242C>T

19 papers

NM_000535.7

p.D414fs

c.1240_1241fs

1 paper

NM_000535.7

p.D414insFs

c.1241dupA

2 papers

NM_000535.7

p.V415V

c.1245G>A

1 paper

NM_000535.7

p.D414V

c.1241A>T

1 paper

NM_000535.7

p.S416P

c.1246T>C

2 papers

NM_000535.7

p.D414Y

c.1240G>T

25 papers

NM_000535.7

p.K413insFs

c.1239dupA

25 papers

NM_000535.7

p.K413delFs

c.1239delT

5 papers

NM_000535.7

p.K412del1

c.1234_1235delTTT

21 papers

NM_000535.7

p.D414fs

c.1240_1241fs

2 papers

NM_000535.7

p.S416C

c.1247C>G