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.G50Fs

c.150delinsAGFs

Surrounding Variants

1 paper

NM_000535.7

p.G50insFs

c.150dupT

1 paper

NM_000535.7

p.A51Fs

c.151delinsAACFs

2 papers

NM_000535.7

p.A51T

c.151G>A

1 paper

NM_000535.7

p.G50D

c.149G>A

1 paper

NM_000535.7

p.L47_G50del4

c.139_149del12

1 paper

NM_000535.7

p.G50R

c.148G>C

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

1 paper

NM_000535.7

p.A51A

c.153C>G

1 paper

NM_000535.7

p.A49G

c.146C>G

1 paper

NM_000535.7

p.A49insFs

c.146_147insA