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.G720_Q721delFs

c.2160_2163del4

Surrounding Variants

1 paper

NM_000535.7

p.Q721delFs

c.2162delT

1 paper

NM_000535.7

p.Q721R

c.2162A>G

2 papers

NM_000535.7

p.Q719insFs

c.2157dupG

1 paper

NM_000535.7

p.L723insFs

c.2167dupC

2 papers

NM_000535.7

p.G720G

c.2160G>A

1 paper

NM_000535.7

p.G720Fs

c.2160delinsCAGGAAFs

1 paper

NM_000535.7

p.G720A

c.2159G>C

1 paper

NM_000535.7

p.L723L

c.2169C>G

1 paper

NM_000535.7

p.L723L

c.2169C>A

1 paper

NM_000535.7

p.L718_Q719del2

c.2152_2156del6

3 papers

NM_000535.7

p.I724fs

c.2170_2171fs

1 paper

NM_000535.7

p.L723delFs

c.2167_2168delAG