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.Q186insFs

c.557dupA

Surrounding Variants

1 paper

NM_015102.5

p.L185R

c.554T>G

1 paper

NM_015102.5

p.L185P

c.554T>C

1 paper

NM_015102.5

p.L185fs

c.553_554fs

2 papers

NM_015102.5

p.T188K

c.563C>A

1 paper

NM_015102.5

p.S184I

c.551G>T

1 paper

NM_015102.5

p.S184T

c.551G>C

1 paper

NM_015102.5

p.L189L

c.565C>T

1 paper

NM_015102.5

p.K190E

c.568A>G

1 paper

NM_015102.5

p.L179_E181del0

c.537_542del6

1 paper

NM_015102.5

p.E181Q

c.541G>C

1 paper

NM_015102.5

p.P193L

c.578C>T

1 paper

NM_015102.5

p.A194G

c.581C>G