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

2 papers

NM_000535.7

p.S507N

c.1520G>A

Surrounding Variants

1 paper

NM_000535.7

p.S507insFs

c.1519dupA

1 paper

NM_000535.7

p.S507insFs

c.1520_1521insTA

1 paper

NM_000535.7

p.S507insFs

c.1520dupG

2 papers

NM_000535.7

p.S507delFs

c.1520delC

1 paper

NM_000535.7

p.S507fs

c.1519_1520fs

1 paper

NM_000535.7

p.F506insFs

c.1517_1518insT

1 paper

NM_000535.7

p.F506fs

c.1516_1517fs

1 paper

NM_000535.7

p.F506delFs

c.1516_1517delAA

1 paper

NM_000535.7

p.I508F

c.1522A>T

1 paper

NM_000535.7

p.I508_P509ins4

c.1522_1526ins12

1 paper

NM_000535.7

p.F506S

c.1517T>C

1 paper

NM_000535.7

p.G505insFs

c.1513dupG