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.L146_P153del8

c.436_458del24

Surrounding Variants

1 paper

NM_000534.5

p.L146insFs

c.437dupT

1 paper

NM_000534.5

p.A145A

c.435T>G

1 paper

NM_000534.5

p.T144_A145ins5

c.430_434ins15

2 papers

NM_000534.5

p.T144fs

c.430_431fs

1 paper

NM_000534.5

p.L146fs

c.436_437fs

1 paper

NM_000534.5

p.L146_P153del0

c.438_458del21

2 papers

NM_000534.5

p.V143insFs

c.427_428insT

2 papers

NM_000534.5

p.T142T

c.426T>G

1 paper

NM_000534.5

p.R147S

c.441A>T

1 paper

NM_000534.5

p.T141R

c.422C>G

1 paper

NM_000534.5

p.F149Y

c.446T>A

2 papers

NM_000534.5

p.K150Q

c.448A>C