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.N176delFs

c.526delT

Surrounding Variants

1 paper

NM_000535.7

p.I177insFs

c.529dupA

1 paper

NM_000535.7

p.I177T

c.530T>C

1 paper

NM_000535.7

p.Q174_I177delFs

c.520_529del10

1 paper

NM_000535.7

p.N176fs

c.526_527fs

1 paper

NM_000535.7

p.N176Y

c.526A>T

1 paper

NM_000535.7

p.R175delFs

c.524delC

1 paper

NM_000535.7

p.E172_R175del4

c.514_524del12

2 papers

NM_000535.7

p.N176_I177delFs

c.528_529delTA

1 paper

NM_000535.7

p.R175insFs

c.524_525insGA

1 paper

NM_000535.7

p.R175R

c.525G>A

5 papers

NM_000535.7

p.R175K

c.524G>A

2 papers

NM_000535.7

p.Q174_R175delFs

c.522_523delTT