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.M711_Q714del4

c.2131_2141del12

Surrounding Variants

1 paper

NM_000535.7

p.H715Y

c.2143C>T

1 paper

NM_000535.7

p.E710_Q714del5

c.2128_2141del15

1 paper

NM_000535.7

p.Q714insFs

c.2141dupA

1 paper

NM_000535.7

p.Q714Q

c.2142G>A

1 paper

NM_000535.7

p.E710_Q714Fs

c.2128_2142delinsTCGTATAFs

1 paper

NM_000535.7

p.H715P

c.2144A>C

2 papers

NM_000535.7

p.Q714*

c.2140C>T

1 paper

NM_000535.7

p.V698_Q713del16

c.2092_2138del48

1 paper

NM_000535.7

p.T716fs

c.2146_2147fs

1 paper

NM_000535.7

p.T716S

c.2146A>T

1 paper

NM_000535.7

p.H715delFs

c.2145delG

1 paper

NM_000535.7

p.Q713H

c.2139G>T