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.D619D

c.1857C>T

Surrounding Variants

1 paper

NM_000535.7

p.D619E

c.1857C>G

1 paper

NM_000535.7

p.D619E

c.1857C>A

1 paper

NM_000535.7

p.F620fs

c.1858_1859fs

1 paper

NM_000535.7

p.D619delFs

c.1857delG

1 paper

NM_000535.7

p.L618_D619delFs

c.1854_1857del4

5 papers

NM_000535.7

p.D619delFs

c.1855delC

1 paper

NM_000535.7

p.F620insFs

c.1859_1860insAT

2 papers

NM_000535.7

p.D619Y

c.1855G>T

1 paper

NM_000535.7

p.D619H

c.1855G>C

4 papers

NM_000535.7

p.D619N

c.1855G>A

3 papers

NM_000535.7

p.L618del1

c.1852_1854delCAG

2 papers

NM_000535.7

p.D619fs

c.1855_1856fs