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

1–12 of 73 variants

6 papers

NM_032575.3

p.C175R

c.523T>C

3 papers

NM_032575.3

p.L89V

c.265C>G

3 papers

NM_032575.3

p.R219Splc

c.656+1G>T

3 papers

NM_032575.3

p.C265G

c.793T>G

2 papers

NM_032575.3

p.H188_Y192del0

c.562_576del15

2 papers

NM_032575.3

p.K195R

c.584A>G

2 papers

NM_032575.3

p.R236C

c.706C>T

2 papers

NM_032575.3

p.Y288Y

c.864T>C

2 papers

NM_032575.3

p.R332C

c.994C>T

2 papers

NM_032575.3

p.G397insFs

c.1190dupG

2 papers

NM_032575.3

p.M398fs

c.1192_1193fs

2 papers

NM_032575.3

p.G425G

c.1275A>T