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

2 papers

NM_000535.7

p.A49T

c.145G>A

Surrounding Variants

1 paper

NM_000535.7

p.A49S

c.145G>T

1 paper

NM_000535.7

p.N45_D48del4

c.133_143del12

1 paper

NM_000535.7

p.D48_A49insFs

c.144_145ins5

1 paper

NM_000535.7

p.D48D

c.144T>C

1 paper

NM_000535.7

p.A49G

c.146C>G

1 paper

NM_000535.7

p.A49insFs

c.146_147insA

2 papers

NM_000535.7

p.A49D

c.146C>A

1 paper

NM_000535.7

p.A49delFs

c.145delC

1 paper

NM_000535.7

p.V39_D48del10

c.115_143del30

1 paper

NM_000535.7

p.A49A

c.147T>C

1 paper

NM_000535.7

p.A49delFs

c.145_146delGC

2 papers

NM_000535.7

p.L47_A49delFs

c.139_146del8