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.D704insFs

c.2110dupG

Surrounding Variants

1 paper

NM_000535.7

p.D704D

c.2112C>T

2 papers

NM_000535.7

p.E705*

c.2113G>T

1 paper

NM_000535.7

p.T703T

c.2109G>T

2 papers

NM_000535.7

p.E705Q

c.2113G>C

69 papers

NM_000535.7

p.E705K

c.2113G>A

7 papers

NM_000535.7

p.T703M

c.2108C>T

1 paper

NM_000535.7

p.T703K

c.2108C>A

2 papers

NM_000535.7

p.E705delFs

c.2113delC

3 papers

NM_000535.7

p.E705D

c.2115G>T

1 paper

NM_000535.7

p.E705_K706insFs

c.2115_2116insA

3 papers

NM_000535.7

p.E705D

c.2115G>C

1 paper

NM_000535.7

p.A702_E705delFs

c.2105_2114del10