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.C170G

c.508T>G

Surrounding Variants

1 paper

NM_032575.3

p.F149S

c.446T>C

1 paper

NM_032575.3

p.A141fs

c.421_422fs

6 papers

NM_032575.3

p.C175R

c.523T>C

2 papers

NM_032575.3

p.H188_Y192del0

c.562_576del15

1 paper

NM_032575.3

p.Y122*

c.366T>A

1 paper

NM_032575.3

p.Y122*

c.366T>G

1 paper

NM_032575.3

p.Y192del1

c.574_575delTAC

2 papers

NM_032575.3

p.K195R

c.584A>G

1 paper

NM_032575.3

p.E197K

c.589G>A

1 paper

NM_032575.3

p.C204G

c.610T>G

1 paper

NM_032575.3

p.G213V

c.638G>T

3 papers

NM_032575.3

p.R219Splc

c.656+1G>T