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.D185Y

c.553G>T

Surrounding Variants

1 paper

NM_000534.5

p.P184P

c.552T>G

1 paper

NM_000534.5

p.P184S

c.550C>T

2 papers

NM_000534.5

p.I188S

c.563T>G

1 paper

NM_000534.5

p.H192L

c.575A>T

1 paper

NM_000534.5

p.N193Y

c.577A>T

1 paper

NM_000534.5

p.K194delFs

c.580delA

1 paper

NM_000534.5

p.K194E

c.580A>G

1 paper

NM_000534.5

p.L175F

c.523C>T

1 paper

NM_000534.5

p.L175_L176delFs

c.524_528del5

1 paper

NM_000534.5

p.I169delFs

c.507delA

1 paper

NM_000534.5

p.I169fs

c.505_506fs

3 papers

NM_000534.5

p.I169V

c.505A>G