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.V208L

c.622G>C

Surrounding Variants

1 paper

NM_015102.5

p.V208L

c.622G>T

1 paper

NM_015102.5

p.S209T

c.625T>A

1 paper

NM_015102.5

p.S209F

c.626C>T

1 paper

NM_015102.5

p.L211R

c.632T>G

1 paper

NM_015102.5

p.E204fs

c.610_611fs

1 paper

NM_015102.5

p.Q212*

c.634C>T

1 paper

NM_015102.5

p.Q213E

c.637C>G

1 paper

NM_015102.5

p.I214fs

c.640_641fs

1 paper

NM_015102.5

p.I214M

c.642A>G

1 paper

NM_015102.5

p.I214fs

c.640_641fs

2 papers

NM_015102.5

p.I214delFs

c.641delA

1 paper

NM_015102.5

p.H200R

c.599A>G