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.R1109*

c.3325C>T

Surrounding Variants

4 papers

NM_015102.5

p.A1110V

c.3329C>T

1 paper

NM_015102.5

p.K1105_V1106Splc

c.3316-1G>C

1 paper

NM_015102.5

p.K1105_V1106Splc

c.3316-2A>G

1 paper

NM_015102.5

p.P1115S

c.3343C>T

4 papers

NM_015102.5

p.T1122P

c.3364A>C

1 paper

NM_015102.5

p.E1124*

c.3370G>T

1 paper

NM_015102.5

p.E1124_L1125insCC

c.3370_3374ins6

1 paper

NM_015102.5

p.Q1126*

c.3376C>T

2 papers

NM_015102.5

p.R1135delFs

c.3403delG

1 paper

NM_015102.5

p.R1135fs

c.3403_3404fs

1 paper

NM_015102.5

p.H1138delFs

c.3412_3413delTG

1 paper

NM_015102.5

p.K1145R

c.3434A>G