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.R569*

c.1705C>T

Surrounding Variants

2 papers

NM_000534.5

p.R569Q

c.1706G>A

1 paper

NM_000534.5

p.S567T

c.1700G>C

1 paper

NM_000534.5

p.A577T

c.1729G>A

1 paper

NM_000534.5

p.V560fs

c.1678_1679fs

1 paper

NM_000534.5

p.V560delFs

c.1678delG

1 paper

NM_000534.5

p.K559delFs

c.1675delA

2 papers

NM_000534.5

p.S557_G558insFs

c.1671_1672insAA

2 papers

NM_000534.5

p.V582I

c.1744G>A

1 paper

NM_000534.5

p.N555H

c.1663A>C

1 paper

NM_000534.5

p.N555delFs

c.1664delA

1 paper

NM_000534.5

p.D584H

c.1750G>C

1 paper

NM_000534.5

p.V552V

c.1656A>G