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

2 papers

NM_000534.5

p.D167H

c.499G>C

Surrounding Variants

1 paper

NM_000534.5

p.D167N

c.499G>A

1 paper

NM_000534.5

p.K166T

c.497A>C

1 paper

NM_000534.5

p.E168K

c.502G>A

1 paper

NM_000534.5

p.C165_K166ins2

c.495_496ins6

1 paper

NM_000534.5

p.I169fs

c.505_506fs

3 papers

NM_000534.5

p.I169V

c.505A>G

2 papers

NM_000534.5

p.C165fs

c.493_494fs

1 paper

NM_000534.5

p.I169delFs

c.507delA

1 paper

NM_000534.5

p.K164fs

c.490_491fs

3 papers

NM_000534.5

p.K163fs

c.487_488fs

1 paper

NM_000534.5

p.K163fs

c.487_488fs

7 papers

NM_000534.5

p.K163insFs

c.488_489insA