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.K538T

c.1613A>C

Surrounding Variants

1 paper

NM_000535.7

p.K538insFs

c.1612dupA

1 paper

NM_000535.7

p.E531_E537ins2

c.1593_1610dup18

1 paper

NM_000535.7

p.A539fs

c.1615_1616fs

1 paper

NM_000535.7

p.K538delFs

c.1613delT

1 paper

NM_000535.7

p.K538_A539delins

c.1614_1615delinsAG

2 papers

NM_000535.7

p.E537_K538delFs

c.1610_1613del4

1 paper

NM_000535.7

p.Q536insFs

c.1608dupG

6 papers

NM_000535.7

p.E537K

c.1609G>A

1 paper

NM_000535.7

p.S535_Q536del2

c.1603_1607del6

1 paper

NM_000535.7

p.K538_A539delFs

c.1613_1616del4

2 papers

NM_000535.7

p.P540S

c.1618C>T

4 papers

NM_000535.7

p.P540_K541insFs

c.1620_1621insG