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

8 papers

NM_000535.7

p.H388delFs

c.1164delA

Surrounding Variants

1 paper

NM_000535.7

p.M387_H388del2

c.1159_1163del6

1 paper

NM_000535.7

p.H388fs

c.1162_1163fs

2 papers

NM_000535.7

p.H388insFs

c.1163_1164insA

1 paper

NM_000535.7

p.H388Q

c.1164T>G

1 paper

NM_000535.7

p.H388Q

c.1164T>A

1 paper

NM_000535.7

p.H388insFs

c.1163_1164insT

6 papers

NM_000535.7

p.H388fs

c.1162_1163fs

1 paper

NM_000535.7

p.A390S

c.1168G>T

3 papers

NM_000535.7

p.H388_A389del2

c.1162_1166del6

1 paper

NM_000535.7

p.K386_A389delFs

c.1158_1167del10

9 papers

NM_000535.7

p.A390V

c.1169C>T

2 papers

NM_000535.7

p.A390G

c.1169C>G