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.N379insFs

c.1135_1136insA

Surrounding Variants

1 paper

NM_000534.5

p.K378R

c.1133A>G

2 papers

NM_000534.5

p.N382K

c.1146T>G

1 paper

NM_000534.5

p.K372R

c.1115A>G

1 paper

NM_000534.5

p.V387G

c.1160T>G

2 papers

NM_000534.5

p.I388L

c.1162A>C

2 papers

NM_000534.5

p.L369P

c.1106T>C

1 paper

NM_000534.5

p.F370insFs

c.1110dupT

1 paper

NM_000534.5

p.D367Y

c.1099G>T

1 paper

NM_000534.5

p.T366P

c.1096A>C

1 paper

NM_000534.5

p.N392Y

c.1174A>T

2 papers

NM_000534.5

p.M394T

c.1181T>C

1 paper

NM_000534.5

p.S361N

c.1082G>A