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

Selected Variant

1 paper

NM_015102.5

p.F729S

c.2186T>C

Surrounding Variants

1 paper

NM_015102.5

p.G728G

c.2184G>T

1 paper

NM_015102.5

p.G728R

c.2182G>A

1 paper

NM_015102.5

p.G733S

c.2197G>A

8 papers

NM_015102.5

p.G733D

c.2198G>A

1 paper

NM_015102.5

p.E734K

c.2200G>A

7 papers

NM_015102.5

p.R735W

c.2203C>T

3 papers

NM_015102.5

p.Y723C

c.2168A>G

1 paper

NM_015102.5

p.R736H

c.2207G>A

1 paper

NM_015102.5

p.R740G

c.2218C>G

1 paper

NM_015102.5

p.R740H

c.2219G>A

1 paper

NM_015102.5

p.S716fs

c.2146_2147fs

2 papers

NM_015102.5

p.G715delFs

c.2145delC