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

2 papers

NM_004646.4

p.Y439Splc

c.1315+1G>A

Surrounding Variants

1 paper

NM_004646.4

p.Y439Splc

c.1315+5G>A

1 paper

NM_004646.4

p.N436N

c.1308C>T

1 paper

NM_004646.4

p.N436K

c.1308C>G

2 papers

NM_004646.4

p.N436_V437insFs

c.1308_1309insAC

1 paper

NM_004646.4

p.N436K

c.1308C>A

1 paper

NM_004646.4

p.K431*

c.1291A>T

1 paper

NM_004646.4

p.K430insFs

c.1288_1289insTA

1 paper

NM_004646.4

p.E427D

c.1281G>T

1 paper

NM_004646.4

p.E427D

c.1281G>C

2 papers

NM_004646.4

p.T425delFs

c.1275delG

1 paper

NM_004646.4

p.S421_E422del2

c.1261_1265del6

2 papers

NM_004646.4

p.F420V

c.1258T>G