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.K706delFs

c.2118delC

Surrounding Variants

1 paper

NM_000535.7

p.Y707N

c.2119T>A

3 papers

NM_000535.7

p.K706fs

c.2116_2117fs

21 papers

NM_000535.7

p.K706delFs

c.2117delT

1 paper

NM_000535.7

p.D704_K706delFs

c.2111_2117del7

1 paper

NM_000535.7

p.Y707F

c.2120A>T

1 paper

NM_000535.7

p.Y707C

c.2120A>G

10 papers

NM_000535.7

p.K706fs

c.2116_2117fs

2 papers

NM_000535.7

p.N708fs

c.2122_2123fs

1 paper

NM_000535.7

p.K706*

c.2116A>T

1 paper

NM_000535.7

p.K706E

c.2116A>G

1 paper

NM_000535.7

p.D704_E705del2

c.2110_2114del6

3 papers

NM_000535.7

p.E705D

c.2115G>T