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.E978delFs

c.2932delC

Surrounding Variants

1 paper

NM_015102.5

p.E978fs

c.2932_2933fs

4 papers

NM_015102.5

p.T977M

c.2930C>T

1 paper

NM_015102.5

p.T980A

c.2938A>G

1 paper

NM_015102.5

p.T980M

c.2939C>T

1 paper

NM_015102.5

p.T980T

c.2940G>A

1 paper

NM_015102.5

p.A974V

c.2921C>T

1 paper

NM_015102.5

p.L973L

c.2917C>T

1 paper

NM_015102.5

p.T984M

c.2951C>T

3 papers

NM_015102.5

p.S972G

c.2914A>G

1 paper

NM_015102.5

p.L985delFs

c.2954delA

1 paper

NM_015102.5

p.G986R

c.2956G>A

1 paper

NM_015102.5

p.L970P

c.2909T>C