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

10 papers

NM_015102.5

p.F91L

c.273T>G

Surrounding Variants

10 papers

NM_015102.5

p.F91L

c.273T>A

11 papers

NM_015102.5

p.F91L

c.271T>C

1 paper

NM_015102.5

p.R88G

c.262A>G

1 paper

NM_015102.5

p.S87C

c.260C>G

2 papers

NM_015102.5

p.P86delFs

c.257_258delCG

1 paper

NM_015102.5

p.P86fs

c.256_257fs

1 paper

NM_015102.5

p.P86L

c.257C>T

1 paper

NM_015102.5

p.P86fs

c.256_257fs

1 paper

NM_015102.5

p.P86T

c.256C>A

1 paper

NM_015102.5

p.P85L

c.254C>T

1 paper

NM_015102.5

p.T82M

c.245C>T

2 papers

NM_015102.5

p.T82R

c.245C>G