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.L426_R427insFs

c.1278_1279insTG

Surrounding Variants

1 paper

NM_000535.7

p.R427C

c.1279C>T

1 paper

NM_000535.7

p.S425_L426delFs

c.1275_1276delGA

5 papers

NM_000535.7

p.R427H

c.1280G>A

1 paper

NM_000535.7

p.L426del1

c.1276_1277delAAG

2 papers

NM_000535.7

p.S425_R427delFs

c.1275_1279del5

1 paper

NM_000535.7

p.L426delFs

c.1276delG

2 papers

NM_000535.7

p.E410_L426del0

c.1229_1276del48

1 paper

NM_000535.7

p.L426fs

c.1276_1277fs

4 papers

NM_000535.7

p.L426F

c.1276C>T

1 paper

NM_000535.7

p.S425insFs

c.1275dupT

5 papers

NM_000535.7

p.R427delFs

c.1281delA

1 paper

NM_000535.7

p.E422_R427delFs

c.1266_1281del16