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

Selected Variant

1 paper

NM_001367484.1

p.S41_G46del0

c.121_138del18

Surrounding Variants

1 paper

NM_001367484.1

p.V38_G46del0

c.112_138del27

1 paper

NM_001367484.1

p.A35_G46del0

c.103_138del36

1 paper

NM_001367484.1

p.S41_C45del0

c.123_134del12

1 paper

NM_001367484.1

p.G43_G44del1

c.129_131delCCG

1 paper

NM_001367484.1

p.G44A

c.131G>C

1 paper

NM_001367484.1

p.G44S

c.130G>A

1 paper

NM_001367484.1

p.G43_G49del0

c.128_145del18

1 paper

NM_001367484.1

p.T39_S41delins

c.116_122delinsC

1 paper

NM_001367484.1

p.G46_R51del0

c.138_152del15

1 paper

NM_001367484.1

p.S41_L53del0

c.122_157del36

1 paper

NM_001367484.1

p.A35_V40del0

c.105_119del15

1 paper

NM_001367484.1

p.T39S

c.116C>G