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.I61I

c.183C>T

Surrounding Variants

1 paper

NM_000534.5

p.I61M

c.183C>G

1 paper

NM_000534.5

p.A63insFs

c.187dupG

2 papers

NM_000534.5

p.G60A

c.179G>C

2 papers

NM_000534.5

p.G60S

c.178G>A

1 paper

NM_000534.5

p.E59G

c.176A>G

8 papers

NM_000534.5

p.E59K

c.175G>A

1 paper

NM_000534.5

p.E59fs

c.175_176fs

1 paper

NM_000534.5

p.G58G

c.174G>C

2 papers

NM_000534.5

p.G58G

c.174G>T

1 paper

NM_000534.5

p.G58_E59delins

c.174_175delinsTA

1 paper

NM_000534.5

p.D65_M71delFs

c.195_211del17

3 papers

NM_000534.5

p.G58R

c.172G>A