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

4 papers

NM_000534.5

p.E543*

c.1627G>T

Surrounding Variants

1 paper

NM_000534.5

p.N542I

c.1625A>T

3 papers

NM_000534.5

p.N542H

c.1624A>C

1 paper

NM_000534.5

p.N542_E543delins

c.1624_1627delinsCATT

1 paper

NM_000534.5

p.N547S

c.1640A>G

3 papers

NM_000534.5

p.K548R

c.1643A>G

10 papers

NM_000534.5

p.E537K

c.1609G>A

1 paper

NM_000534.5

p.N551S

c.1652A>G

1 paper

NM_000534.5

p.V552V

c.1656A>G

1 paper

NM_000534.5

p.N555delFs

c.1664delA

1 paper

NM_000534.5

p.N555H

c.1663A>C

1 paper

NM_000534.5

p.N530S

c.1589A>G

2 papers

NM_000534.5

p.N530H

c.1588A>C