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

7 papers

NM_015102.5

p.R59*

c.175C>T

Surrounding Variants

1 paper

NM_015102.5

p.H57_R59delFs

c.169_176del8

1 paper

NM_015102.5

p.S61fs

c.181_182fs

1 paper

NM_015102.5

p.H57D

c.169C>G

1 paper

NM_015102.5

p.V54V

c.162T>A

1 paper

NM_015102.5

p.V54D

c.161T>A

1 paper

NM_015102.5

p.D64G

c.191A>G

1 paper

NM_015102.5

p.V50fs

c.148_149fs

2 papers

NM_015102.5

p.V50delFs

c.148delC

1 paper

NM_015102.5

p.R68W

c.202C>T

1 paper

NM_015102.5

p.E49D

c.147G>T

1 paper

NM_015102.5

p.E49D

c.147G>C

2 papers

NM_015102.5

p.R68Q

c.203G>A