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.E488_N489insA

c.1462_1466ins3

Surrounding Variants

1 paper

NM_000534.5

p.G486G

c.1458T>C

1 paper

NM_000534.5

p.G486S

c.1456G>A

2 papers

NM_000534.5

p.S491L

c.1472C>T

2 papers

NM_000534.5

p.E482*

c.1444G>T

2 papers

NM_000534.5

p.E482delins

c.1444_1445delinsTG

1 paper

NM_000534.5

p.N481fs

c.1441_1442fs

1 paper

NM_000534.5

p.A495insFs

c.1484_1485insC

1 paper

NM_000534.5

p.A495_D496ins6

c.1483_1487ins18

1 paper

NM_000534.5

p.E480G

c.1439A>G

1 paper

NM_000534.5

p.D496N

c.1486G>A

1 paper

NM_000534.5

p.N481delFs

c.1442delA

1 paper

NM_000534.5

p.E480fs

c.1438_1439fs