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.N427_I428insT

c.1279_1283ins3

Surrounding Variants

1 paper

NM_000534.5

p.I428V

c.1282A>G

1 paper

NM_000534.5

p.D429A

c.1286A>C

1 paper

NM_000534.5

p.N431Y

c.1291A>T

2 papers

NM_000534.5

p.S423delins

c.1267_1268delinsCC

1 paper

NM_000534.5

p.S422fs

c.1264_1265fs

2 papers

NM_000534.5

p.C421W

c.1263T>G

2 papers

NM_000534.5

p.K433T

c.1298A>C

1 paper

NM_000534.5

p.H420fs

c.1258_1259fs

1 paper

NM_000534.5

p.H420fs

c.1258_1259fs

4 papers

NM_000534.5

p.H420delFs

c.1258delC

1 paper

NM_000534.5

p.G419R

c.1255G>C

1 paper

NM_000534.5

p.A435P

c.1303G>C