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.F589delFs

c.1766_1767delTT

Surrounding Variants

1 paper

NM_000534.5

p.P587L

c.1760C>T

3 papers

NM_000534.5

p.I591L

c.1771A>C

3 papers

NM_000534.5

p.I591L

c.1771A>T

1 paper

NM_000534.5

p.E592_N593insT

c.1774_1778ins3

2 papers

NM_000534.5

p.N593fs

c.1777_1778fs

1 paper

NM_000534.5

p.N593S

c.1778A>G

1 paper

NM_000534.5

p.D584H

c.1750G>C

1 paper

NM_000534.5

p.P594S

c.1780C>T

2 papers

NM_000534.5

p.V582I

c.1744G>A

1 paper

NM_000534.5

p.L598I

c.1792T>A

1 paper

NM_000534.5

p.E599G

c.1796A>G

1 paper

NM_000534.5

p.A577T

c.1729G>A