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.M1_K2insFs

c.3_4insA

Surrounding Variants

1 paper

NM_000534.5

p.M1I

c.3G>T

1 paper

NM_000534.5

p.M1K

c.2T>A

1 paper

NM_000534.5

p.M1T

c.2T>C

1 paper

NM_000534.5

p.M1V

c.1A>G

1 paper

NM_000534.5

p.L4W

c.11T>G

2 papers

NM_000534.5

p.L4L

c.12G>A

2 papers

NM_000534.5

p.L4F

c.12G>C

1 paper

NM_000534.5

p.A6P

c.16G>C

3 papers

NM_000534.5

p.A6V

c.17C>T

1 paper

NM_000534.5

p.A6A

c.18G>A

1 paper

NM_000534.5

p.T8insFs

c.23dupC

1 paper

NM_000534.5

p.T8A

c.22A>G