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.I314T

c.941T>C

Surrounding Variants

1 paper

NM_032575.3

p.Y304N

c.910T>A

2 papers

NM_032575.3

p.R332C

c.994C>T

1 paper

NM_032575.3

p.K296delFs

c.888delG

1 paper

NM_032575.3

p.P333fs

c.997_998fs

1 paper

NM_032575.3

p.P333delFs

c.999delA

1 paper

NM_032575.3

p.C295G

c.883T>G

1 paper

NM_032575.3

p.P337L

c.1010C>T

1 paper

NM_032575.3

p.P338S

c.1012C>T

2 papers

NM_032575.3

p.Y288Y

c.864T>C

1 paper

NM_032575.3

p.D343N

c.1027G>A

3 papers

NM_032575.3

p.C265G

c.793T>G

1 paper

NM_032575.3

p.Y263H

c.787T>C