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.F668insFs

c.2004dupC

Surrounding Variants

2 papers

NM_015102.5

p.Y667*

c.2001T>G

2 papers

NM_015102.5

p.Y667*

c.2001T>A

1 paper

NM_015102.5

p.V666_Y667delFs

c.1998_1999delAC

1 paper

NM_015102.5

p.Y667fs

c.1999_2000fs

4 papers

NM_015102.5

p.Q671*

c.2011C>T

1 paper

NM_015102.5

p.K664delFs

c.1992delC

1 paper

NM_015102.5

p.K664R

c.1991A>G

1 paper

NM_015102.5

p.R674C

c.2020C>T

2 papers

NM_015102.5

p.R674L

c.2021G>T

2 papers

NM_015102.5

p.R674H

c.2021G>A

1 paper

NM_015102.5

p.W662*

c.1986G>A

1 paper

NM_015102.5

p.W662*

c.1985G>A