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.V717_Q719delFs

c.2149_2155del7

Surrounding Variants

1 paper

NM_000535.7

p.L718_Q719insFs

c.2154_2155dupCC

1 paper

NM_000535.7

p.L718delFs

c.2154delG

1 paper

NM_000535.7

p.L718_Q719delFs

c.2154_2155delGG

1 paper

NM_000535.7

p.Q719fs

c.2155_2156fs

1 paper

NM_000535.7

p.Q719insFs

c.2156dupA

5 papers

NM_000535.7

p.Q719delFs

c.2156delT

3 papers

NM_000535.7

p.Q719fs

c.2155_2156fs

6 papers

NM_000535.7

p.Q719*

c.2155C>T

1 paper

NM_000535.7

p.L718_Q719del2

c.2152_2156del6

1 paper

NM_000535.7

p.V717_L718delFs

c.2150_2153del4

1 paper

NM_000535.7

p.L718P

c.2153T>C

1 paper

NM_000535.7

p.G720A

c.2159G>C