Varaico: Literature-Extracted Genetic Variants

NPHP4

380 papers

RefSeq Summary

This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and micro...

Pfam Domains

NPHP4_C2_2ndaa 237–452UCSCNephrocystin-4 second C2-like domain

NPHP4_C2_3rdaa 596–830UCSCNephrocystin-4 C2 third domain

NPHP4_SKaa 906–974UCSCNephrocystin-4 SK-like domain

Ig_NPHP4_1staa 977–1127UCSCNPH4 Ig-like domain 1

Ig_NPHP4_2ndaa 1134–1231UCSCNPH4 Ig-like domain 2

Ig_NPH4_3rdaa 1242–1326UCSCNPH4 Ig-like domain 3

Gene Aliases

HGNC Name

nephrocystin 4

HGNC Alias Symbols

SLSN4; KIAA0673; POC10

Papers

RefSeq ID

Protein change

DNA change

1–12 of 747 variants

12 papers

NM_015102.5

p.R682*

c.2044C>T

11 papers

NM_015102.5

p.F91L

c.271T>C

11 papers

NM_015102.5

p.R1192W

c.3574C>T

10 papers

NM_015102.5

p.F91L

c.273T>G

10 papers

NM_015102.5

p.F91L

c.273T>A

10 papers

NM_015102.5

p.R848W

c.2542C>T

9 papers

NM_015102.5

p.R961H

c.2882G>A

8 papers

NM_015102.5

p.G225C

c.673G>T

8 papers

NM_015102.5

p.G733D

c.2198G>A

7 papers

NM_015102.5

p.R59*

c.175C>T

7 papers

NM_015102.5

p.R658*

c.1972C>T

7 papers

NM_015102.5

p.R735W

c.2203C>T