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.G692S

c.2074G>A

Surrounding Variants

1 paper

NM_015102.5

p.P694A

c.2080C>G

1 paper

NM_015102.5

p.S695I

c.2084G>T

2 papers

NM_015102.5

p.G697_L699del3

c.2089_2096del9

12 papers

NM_015102.5

p.R682*

c.2044C>T

6 papers

NM_015102.5

p.T680M

c.2039C>T

1 paper

NM_015102.5

p.T679M

c.2036C>T

1 paper

NM_015102.5

p.A678delFs

c.2034delT

1 paper

NM_015102.5

p.T679S

c.2035A>T

3 papers

NM_015102.5

p.P677S

c.2029C>T

1 paper

NM_015102.5

p.D709G

c.2126A>G

2 papers

NM_015102.5

p.R674L

c.2021G>T

2 papers

NM_015102.5

p.R674H

c.2021G>A