Varaico: Literature-Extracted Genetic Variants

GLIS1

49 papers

RefSeq Summary

GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008].

Pfam Domains

zf-C2H2_15aa 406–435UCSCC2H2 zinc finger

zf-C2H2aa 438–461UCSCZinc finger, C2H2 type

zf-C2H2aa 467–491UCSCZinc finger, C2H2 type

zf-C2H2aa 497–521UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

GLIS family zinc finger 1

HGNC Alias Symbol

FLJ36155

Papers

RefSeq ID

Protein change

DNA change

1–12 of 101 variants

1 paper

NM_001367484.1

p.M1K

c.2T>A

1 paper

NM_001367484.1

p.A6V

c.17C>T

1 paper

NM_001367484.1

p.A17D

c.50C>A

1 paper

NM_001367484.1

p.P27L

c.80C>T

1 paper

NM_001367484.1

p.L30Fs

c.88delinsAGFs

1 paper

NM_001367484.1

p.G31Fs

c.92delinsCGFs

1 paper

NM_001367484.1

p.G31D

c.92G>A

1 paper

NM_001367484.1

p.F36del1

c.106_108delGAA

1 paper

NM_001367484.1

p.T39S

c.116C>G

1 paper

NM_001367484.1

p.A35_V40del0

c.105_119del15

1 paper

NM_001367484.1

p.T39_S41delins

c.116_122delinsC

1 paper

NM_001367484.1

p.G44S

c.130G>A