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.H320L

c.959A>T

Surrounding Variants

1 paper

NM_004646.4

p.H320Y

c.958C>T

1 paper

NM_004646.4

p.E318_A319ins0

c.954_956dupGGC

1 paper

NM_004646.4

p.V323L

c.967G>T

1 paper

NM_004646.4

p.V323L

c.967G>C

1 paper

NM_004646.4

p.S324A

c.970T>G

2 papers

NM_004646.4

p.G326insFs

c.976_977insA

2 papers

NM_004646.4

p.G326insFs

c.977_978insA

1 paper

NM_004646.4

p.G326G

c.978G>A

1 paper

NM_004646.4

p.T327T

c.981C>T

1 paper

NM_004646.4

p.G312insFs

c.935dupG

2 papers

NM_004646.4

p.Q328R

c.983A>G

1 paper

NM_004646.4

p.G312R

c.934G>C