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.D50H

c.148G>C

Surrounding Variants

1 paper

NM_000534.5

p.F49_K51delFs

c.146_153del8

1 paper

NM_000534.5

p.G48_F49insFs

c.144_145ins5

1 paper

NM_000534.5

p.G48*

c.142G>T

1 paper

NM_000534.5

p.Y47Y

c.141T>C

2 papers

NM_000534.5

p.N46S

c.137A>G

2 papers

NM_000534.5

p.N46delins

c.136_137delinsTC

1 paper

NM_000534.5

p.V54M

c.160G>A

1 paper

NM_000534.5

p.E45D

c.135G>C

1 paper

NM_000534.5

p.E45D

c.135G>T

3 papers

NM_000534.5

p.R55*

c.163C>T

2 papers

NM_000534.5

p.E45K

c.133G>A

1 paper

NM_000534.5

p.E45fs

c.133_134fs