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.A75S

c.223G>T

Surrounding Variants

1 paper

NM_032575.3

p.P66P

c.198C>T

1 paper

NM_032575.3

p.P86fs

c.256_257fs

1 paper

NM_032575.3

p.G88A

c.263G>C

3 papers

NM_032575.3

p.L89V

c.265C>G

1 paper

NM_032575.3

p.N93S

c.278A>G

1 paper

NM_032575.3

p.R102C

c.304C>T

1 paper

NM_032575.3

p.R102H

c.305G>A

1 paper

NM_032575.3

p.S57*

c.170C>G

1 paper

NM_032575.3

p.S57P

c.169T>C

1 paper

NM_032575.3

p.P52S

c.154C>T

1 paper

NM_032575.3

p.R34R

c.102T>G

1 paper

NM_032575.3

p.R32fs

c.94_95fs