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.S840N

c.2519G>A

Surrounding Variants

1 paper

NM_015102.5

p.G838fs

c.2512_2513fs

2 papers

NM_015102.5

p.R837_G838delFs

c.2511_2512delCT

1 paper

NM_015102.5

p.G838fs

c.2512_2513fs

1 paper

NM_015102.5

p.P844L

c.2531C>T

10 papers

NM_015102.5

p.R848W

c.2542C>T

1 paper

NM_015102.5

p.S847delFs

c.2541delA

1 paper

NM_015102.5

p.L863I

c.2587C>A

1 paper

NM_015102.5

p.T866_S869insFs

c.2598_2607dup10

2 papers

NM_015102.5

p.R870fs

c.2608_2609fs

2 papers

NM_015102.5

p.R871Splc

c.2611+1G>A

1 paper

NM_015102.5

p.G829Splc

c.2486-176C>T

1 paper

NM_015102.5

p.H873fs

c.2617_2618fs