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.P440S

c.1318C>T

Surrounding Variants

1 paper

NM_004646.4

p.Y439*

c.1317T>G

1 paper

NM_004646.4

p.Y439*

c.1317T>A

3 papers

NM_004646.4

p.P440P

c.1320C>T

1 paper

NM_004646.4

p.Y439C

c.1316A>G

1 paper

NM_004646.4

p.Y439Splc

c.1316-1G>C

2 papers

NM_004646.4

p.A441T

c.1321G>A

2 papers

NM_004646.4

p.Q442delFs

c.1326delC

7 papers

NM_004646.4

p.I446N

c.1337T>A

1 paper

NM_004646.4

p.I446fs

c.1336_1337fs

20 papers

NM_004646.4

p.E447K

c.1339G>A

1 paper

NM_004646.4

p.I446delFs

c.1338delA

1 paper

NM_004646.4

p.E447fs

c.1339_1340fs