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.T155_S158del4

c.463_473del12

Surrounding Variants

13 papers

NM_000535.7

p.V159M

c.475G>A

1 paper

NM_000535.7

p.S158delFs

c.474delG

1 paper

NM_000535.7

p.V159insFs

c.475dupG

1 paper

NM_000535.7

p.V159A

c.476T>C

1 paper

NM_000535.7

p.V159delFs

c.475delC

1 paper

NM_000535.7

p.S158S

c.474C>T

1 paper

NM_000535.7

p.S158delFs

c.473delC

1 paper

NM_000535.7

p.T156_V157delFs

c.468_471del4

2 papers

NM_000535.7

p.S158N

c.473G>A

3 papers

NM_000535.7

p.Q160fs

c.478_479fs

3 papers

NM_000535.7

p.Q160*

c.478C>T

4 papers

NM_000535.7

p.Q160K

c.478C>A