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

2 papers

NM_032575.3

p.S471R

c.1413C>A

Surrounding Variants

2 papers

NM_032575.3

p.S471R

c.1413C>G

2 papers

NM_032575.3

p.S471R

c.1411A>C

1 paper

NM_032575.3

p.T468M

c.1403C>T

1 paper

NM_032575.3

p.H461Y

c.1381C>T

1 paper

NM_032575.3

p.T486insFs

c.1456dupA

1 paper

NM_032575.3

p.P452H

c.1355C>A

1 paper

NM_032575.3

p.P452L

c.1355C>T

1 paper

NM_032575.3

p.T492A

c.1474A>G

1 paper

NM_032575.3

p.T492T

c.1476G>A

1 paper

NM_032575.3

p.G449R

c.1345G>A

1 paper

NM_032575.3

p.G449R

c.1345G>C

1 paper

NM_032575.3

p.K441R

c.1322A>G