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.S601*

c.1802C>G

Surrounding Variants

1 paper

NM_000535.7

p.S601*

c.1802C>A

1 paper

NM_000535.7

p.S601insFs

c.1803dupA

1 paper

NM_000535.7

p.S601delFs

c.1803delT

2 papers

NM_000535.7

p.M600T

c.1799T>C

3 papers

NM_000535.7

p.M600K

c.1799T>A

1 paper

NM_000535.7

p.D599delFs

c.1796_1797delGT

1 paper

NM_000535.7

p.Q598_D599delFs

c.1792_1796del5

1 paper

NM_000535.7

p.A602G

c.1805C>G

1 paper

NM_000535.7

p.A602D

c.1805C>A

1 paper

NM_000535.7

p.Q598_S601delFs

c.1794_1803del10

2 papers

NM_000535.7

p.A602delFs

c.1804_1805delGC

1 paper

NM_000535.7

p.S601_A602delFs

c.1801_1805del5