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.E1013D

c.3039G>C

Surrounding Variants

1 paper

NM_015102.5

p.E1013D

c.3039G>T

2 papers

NM_015102.5

p.E1013K

c.3037G>A

1 paper

NM_015102.5

p.S1015Splc

c.3044+1G>T

1 paper

NM_015102.5

p.N1011delFs

c.3032delT

3 papers

NM_015102.5

p.D1010N

c.3028G>A

1 paper

NM_015102.5

p.I1009I

c.3027C>T

1 paper

NM_015102.5

p.V1007V

c.3021G>A

1 paper

NM_015102.5

p.V1007G

c.3020T>G

2 papers

NM_015102.5

p.T1004fs

c.3010_3011fs

2 papers

NM_015102.5

p.T1004insFs

c.3010dupA

1 paper

NM_015102.5

p.T1004fs

c.3010_3011fs

1 paper

NM_015102.5

p.N1000_Q1002delFs

c.2999_3005del7