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

8 papers

NM_000534.5

p.R919C

c.2755C>T

Surrounding Variants

4 papers

NM_000534.5

p.R919H

c.2756G>A

1 paper

NM_000534.5

p.P920fs

c.2758_2759fs

2 papers

NM_000534.5

p.G918fs

c.2752_2753fs

2 papers

NM_000534.5

p.G918delFs

c.2753delG

1 paper

NM_000534.5

p.F922delFs

c.2766delT

1 paper

NM_000534.5

p.C915Y

c.2744G>A

1 paper

NM_000534.5

p.H923fs

c.2767_2768fs

1 paper

NM_000534.5

p.C915G

c.2743T>G

4 papers

NM_000534.5

p.Y927C

c.2780A>G

1 paper

NM_000534.5

p.N910K

c.2730T>A

1 paper

NM_000534.5

p.N910K

c.2730T>G

1 paper

NM_000534.5

p.L928P

c.2783T>C