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

2 papers

NM_000534.5

p.W609*

c.1826G>A

Surrounding Variants

1 paper

NM_000534.5

p.W609S

c.1826G>C

1 paper

NM_000534.5

p.W609_T611delFs

c.1827_1831del5

2 papers

NM_000534.5

p.W609*

c.1827G>A

1 paper

NM_000534.5

p.W609_T611del3

c.1825_1832del9

2 papers

NM_000534.5

p.T611insFs

c.1831dupA

1 paper

NM_000534.5

p.T611A

c.1831A>G

4 papers

NM_000534.5

p.L612M

c.1834T>A

1 paper

NM_000534.5

p.L612F

c.1836G>T

1 paper

NM_000534.5

p.E614A

c.1841A>C

2 papers

NM_000534.5

p.T602delins

c.1804_1805delinsGG

1 paper

NM_000534.5

p.K617Q

c.1849A>C

1 paper

NM_000534.5

p.A601V

c.1802C>T