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.H873fs

c.2617_2618fs

Surrounding Variants

1 paper

NM_015102.5

p.H873fs

c.2617_2618fs

3 papers

NM_015102.5

p.H873insFs

c.2618_2619insA

1 paper

NM_015102.5

p.V875M

c.2623G>A

1 paper

NM_015102.5

p.K879*

c.2635A>T

1 paper

NM_015102.5

p.A881V

c.2642C>T

1 paper

NM_015102.5

p.V883M

c.2647G>A

1 paper

NM_015102.5

p.S885R

c.2653A>C

1 paper

NM_015102.5

p.S885R

c.2655T>G

1 paper

NM_015102.5

p.S885R

c.2655T>A

1 paper

NM_015102.5

p.E886_L887del1

c.2658_2660delAGC

1 paper

NM_015102.5

p.H894R

c.2681A>G

1 paper

NM_015102.5

p.R896delFs

c.2686delG