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.G501V

c.1502G>T

Surrounding Variants

4 papers

NM_000534.5

p.G501R

c.1501G>A

5 papers

NM_000534.5

p.G501R

c.1501G>C

2 papers

NM_000534.5

p.I503L

c.1507A>C

1 paper

NM_000534.5

p.I503L

c.1507A>T

1 paper

NM_000534.5

p.E497D

c.1491G>C

1 paper

NM_000534.5

p.E497D

c.1491G>T

1 paper

NM_000534.5

p.D496N

c.1486G>A

1 paper

NM_000534.5

p.A495insFs

c.1484_1485insC

1 paper

NM_000534.5

p.A495_D496ins6

c.1483_1487ins18

2 papers

NM_000534.5

p.G509_E510insFs

c.1527_1528insAA

2 papers

NM_000534.5

p.E510fs

c.1528_1529fs

1 paper

NM_000534.5

p.N511D

c.1531A>G