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.N708_F709delFs

c.2123_2126del4

Surrounding Variants

2 papers

NM_000535.7

p.F709F

c.2127C>T

1 paper

NM_000535.7

p.F709insFs

c.2125dupT

1 paper

NM_000535.7

p.E710*

c.2128G>T

1 paper

NM_000535.7

p.N708_F709ins0

c.2124_2126dupCTT

1 paper

NM_000535.7

p.E710Q

c.2128G>C

1 paper

NM_000535.7

p.E710K

c.2128G>A

1 paper

NM_000535.7

p.T703_F709del7

c.2107_2126del21

1 paper

NM_000535.7

p.E710fs

c.2128_2129fs

1 paper

NM_000535.7

p.F709insFs

c.2125_2126insA

1 paper

NM_000535.7

p.F709fs

c.2125_2126fs

2 papers

NM_000535.7

p.E710delFs

c.2128delC

2 papers

NM_000535.7

p.N708fs

c.2122_2123fs