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.P339A

c.1015C>G

Surrounding Variants

1 paper

NM_000534.5

p.P339S

c.1015C>T

2 papers

NM_000534.5

p.Y337insFs

c.1009_1010insA

2 papers

NM_000534.5

p.Y337fs

c.1009_1010fs

1 paper

NM_000534.5

p.C336Y

c.1007G>A

1 paper

NM_000534.5

p.T335S

c.1004C>G

2 papers

NM_000534.5

p.S342_T343delins

c.1026_1028delinsGTA

1 paper

NM_000534.5

p.T335A

c.1003A>G

1 paper

NM_000534.5

p.T335Fs

c.1003delinsGAFs

2 papers

NM_000534.5

p.T334M

c.1001C>T

1 paper

NM_000534.5

p.N344D

c.1030A>G

2 papers

NM_000534.5

p.M333_T334insFs

c.999_1000insAA

1 paper

NM_000534.5

p.L332L

c.994C>T