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.T403delFs

c.1209delT

Surrounding Variants

1 paper

NM_000534.5

p.D405E

c.1215T>A

1 paper

NM_000534.5

p.D405E

c.1215T>G

1 paper

NM_000534.5

p.H409D

c.1225C>G

1 paper

NM_000534.5

p.D397E

c.1191T>A

1 paper

NM_000534.5

p.D397E

c.1191T>G

1 paper

NM_000534.5

p.D397Y

c.1189G>T

1 paper

NM_000534.5

p.Q410_S426del0

c.1230_1277del48

1 paper

NM_000534.5

p.S412G

c.1234A>G

1 paper

NM_000534.5

p.S412C

c.1234A>T

2 papers

NM_000534.5

p.M394T

c.1181T>C

1 paper

NM_000534.5

p.S412S

c.1236T>C

1 paper

NM_000534.5

p.I413insFs

c.1238_1239insA