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

11 papers

NM_015102.5

p.R1192W

c.3574C>T

Surrounding Variants

2 papers

NM_015102.5

p.E1190E

c.3570A>G

1 paper

NM_015102.5

p.G1189_E1190delFs

c.3567_3568delCC

1 paper

NM_015102.5

p.G1189R

c.3565G>C

1 paper

NM_015102.5

p.G1189R

c.3565G>A

1 paper

NM_015102.5

p.S1203delFs

c.3608delC

2 papers

NM_015102.5

p.P1204L

c.3611C>T

1 paper

NM_015102.5

p.F1210L

c.3628T>C

1 paper

NM_015102.5

p.F1210L

c.3630T>G

1 paper

NM_015102.5

p.F1210L

c.3630T>A

1 paper

NM_015102.5

p.S1215Splc

c.3644+1G>T

2 papers

NM_015102.5

p.S1215Splc

c.3644+1G>C

1 paper

NM_015102.5

p.V1186fs

c.3556_3557fs