Varaico: Literature-Extracted Genetic Variants

NPHS1

626 papers

RefSeq Summary

This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, ...

Pfam Domains

V-setaa 37–128UCSCImmunoglobulin V-set domain

C2-set_2aa 138–228UCSCCD80-like C2-set immunoglobulin domain

C2-set_2aa 241–327UCSCCD80-like C2-set immunoglobulin domain

C2-set_2aa 344–428UCSCCD80-like C2-set immunoglobulin domain

C2-set_2aa 444–538UCSCCD80-like C2-set immunoglobulin domain

C2-set_2aa 548–634UCSCCD80-like C2-set immunoglobulin domain

Gene Aliases

HGNC Name

NPHS1 adhesion molecule, nephrin

HGNC Alias Symbols

CNF; NPHN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004646.4

p.Y109H

c.325T>C

Surrounding Variants

1 paper

NM_004646.4

p.E110*

c.328G>T

9 papers

NM_004646.4

p.A107V

c.320C>T

2 papers

NM_004646.4

p.A107E

c.320C>A

4 papers

NM_004646.4

p.A107T

c.319G>A

2 papers

NM_004646.4

p.D106Y

c.316G>T

11 papers

NM_004646.4

p.D105N

c.313G>A

1 paper

NM_004646.4

p.S104_D105insG

c.310_314ins3

2 papers

NM_004646.4

p.G114D

c.341G>A

1 paper

NM_004646.4

p.C101R

c.301T>C

46 papers

NM_004646.4

p.E117K

c.349G>A

1 paper

NM_004646.4

p.M118L

c.352A>T

1 paper

NM_004646.4

p.E99V

c.296A>T