Varaico: Literature-Extracted Genetic Variants

GLIS2

72 papers

RefSeq Summary

This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expre...

Pfam Domains

zf-C2H2_15aa 204–233UCSCC2H2 zinc finger

zf-C2H2aa 235–257UCSCZinc finger, C2H2 type

zf-C2H2aa 263–287UCSCZinc finger, C2H2 type

zf-C2H2aa 293–317UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

GLIS family zinc finger 2

HGNC Alias Symbol

NPHP7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032575.3

p.G259Splc

c.775+1G>T

Surrounding Variants

1 paper

NM_032575.3

p.R246H

c.737G>A

1 paper

NM_032575.3

p.S245A

c.733T>G

1 paper

NM_032575.3

p.C237G

c.709T>G

2 papers

NM_032575.3

p.R236C

c.706C>T

1 paper

NM_032575.3

p.H229Y

c.685C>T

1 paper

NM_032575.3

p.L223V

c.667C>G

1 paper

NM_032575.3

p.M222V

c.664A>G

3 papers

NM_032575.3

p.R219Splc

c.656+1G>T

1 paper

NM_032575.3

p.G213V

c.638G>T

1 paper

NM_032575.3

p.C204G

c.610T>G

1 paper

NM_032575.3

p.E197K

c.589G>A

2 papers

NM_032575.3

p.K195R

c.584A>G