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.G601D

c.1802G>A

Surrounding Variants

9 papers

NM_004646.4

p.G601A

c.1802G>C

4 papers

NM_004646.4

p.G601R

c.1801G>C

2 papers

NM_004646.4

p.A603S

c.1807G>T

1 paper

NM_004646.4

p.F599F

c.1797C>T

1 paper

NM_004646.4

p.P598S

c.1792C>T

1 paper

NM_004646.4

p.A605P

c.1813G>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.A605insFs

c.1813_1814dupGC

1 paper

NM_004646.4

p.S607R

c.1819A>C

1 paper

NM_004646.4

p.S607R

c.1821C>G

1 paper

NM_004646.4

p.S607R

c.1821C>A