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

1 paper

NM_004646.4

p.L96delFs

c.288delC

Surrounding Variants

1 paper

NM_004646.4

p.H97Y

c.289C>T

1 paper

NM_004646.4

p.L96L

c.286C>T

5 papers

NM_004646.4

p.L96V

c.286C>G

1 paper

NM_004646.4

p.I98S

c.293T>G

5 papers

NM_004646.4

p.I98I

c.294C>T

1 paper

NM_004646.4

p.E99V

c.296A>T

1 paper

NM_004646.4

p.E93V

c.278A>T

1 paper

NM_004646.4

p.C101R

c.301T>C

9 papers

NM_004646.4

p.G92C

c.274G>T

2 papers

NM_004646.4

p.G92Splc

c.275-1G>A

1 paper

NM_004646.4

p.G92Splc

c.275-2A>C

1 paper

NM_004646.4

p.S104_D105insG

c.310_314ins3