Varaico: Literature-Extracted Genetic Variants

PMS1

554 papers

RefSeq Summary

This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a kno...

Pfam Domains

HATPase_caa 17–151UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

HATPase_c_3aa 18–137UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

DNA_mis_repairaa 210–337UCSCDNA mismatch repair protein, C-terminal domain

HMG_boxaa 571–638UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

PMS1 homolog 1, mismatch repair system component

HGNC Previous Symbol

PMSL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000534.5

p.S23R

c.67A>C

Surrounding Variants

1 paper

NM_000534.5

p.S23R

c.69T>A

1 paper

NM_000534.5

p.S23R

c.69T>G

1 paper

NM_000534.5

p.V24delFs

c.70delG

1 paper

NM_000534.5

p.V25I

c.73G>A

1 paper

NM_000534.5

p.T19S

c.56C>G

1 paper

NM_000534.5

p.T19I

c.56C>T

1 paper

NM_000534.5

p.T19S

c.55A>T

5 papers

NM_000534.5

p.E27Q

c.79G>C

1 paper

NM_000534.5

p.I18V

c.52A>G

1 paper

NM_000534.5

p.I17L

c.49A>C

1 paper

NM_000534.5

p.Q16R

c.47A>G

2 papers

NM_000534.5

p.Q16*

c.46C>T