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.T430A

c.1288A>G

Surrounding Variants

2 papers

NM_000535.7

p.T430S

c.1288A>T

1 paper

NM_000535.7

p.T430I

c.1289C>T

1 paper

NM_000535.7

p.T429insFs

c.1287dupA

1 paper

NM_000535.7

p.T429_T430delFs

c.1285_1288del4

1 paper

NM_000535.7

p.T429delFs

c.1285delT

1 paper

NM_000535.7

p.E431K

c.1291G>A

1 paper

NM_000535.7

p.T430delFs

c.1290delT

1 paper

NM_000535.7

p.L426_R427del2

c.1276_1280del6

5 papers

NM_000535.7

p.R427delFs

c.1281delA

1 paper

NM_000535.7

p.E422_R427delFs

c.1266_1281del16

4 papers

NM_000535.7

p.H428fs

c.1282_1283fs

1 paper

NM_000535.7

p.N432fs

c.1294_1295fs