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.E895G

c.2684A>G

Surrounding Variants

1 paper

NM_000534.5

p.D896G

c.2687A>G

1 paper

NM_000534.5

p.I897M

c.2691C>G

1 paper

NM_000534.5

p.S893A

c.2677T>G

1 paper

NM_000534.5

p.L892fs

c.2674_2675fs

1 paper

NM_000534.5

p.I901M

c.2703C>G

1 paper

NM_000534.5

p.P889S

c.2665C>T

1 paper

NM_000534.5

p.R886K

c.2657G>A

1 paper

NM_000534.5

p.S885Y

c.2654C>A

1 paper

NM_000534.5

p.R883H

c.2648G>A

1 paper

NM_000534.5

p.R883_L884insGTA

c.2647_2651ins9

5 papers

NM_000534.5

p.R883C

c.2647C>T

1 paper

NM_000534.5

p.F908I

c.2722T>A