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.A592insFs

c.1774dupG

Surrounding Variants

1 paper

NM_004646.4

p.A592fs

c.1774_1775fs

1 paper

NM_004646.4

p.P593P

c.1779A>C

2 papers

NM_004646.4

p.G589G

c.1767C>G

2 papers

NM_004646.4

p.E588G

c.1763A>G

11 papers

NM_004646.4

p.L587R

c.1760T>G

1 paper

NM_004646.4

p.L587P

c.1760T>C

1 paper

NM_004646.4

p.A597V

c.1790C>T

2 papers

NM_004646.4

p.A597D

c.1790C>A

1 paper

NM_004646.4

p.P598S

c.1792C>T

1 paper

NM_004646.4

p.R586K

c.1757G>A

10 papers

NM_004646.4

p.R586G

c.1756A>G

1 paper

NM_004646.4

p.F599F

c.1797C>T