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.Y1193F

c.3578A>T

Surrounding Variants

2 papers

NM_004646.4

p.D1194N

c.3580G>A

1 paper

NM_004646.4

p.Q1197H

c.3591G>T

1 paper

NM_004646.4

p.Q1197H

c.3591G>C

1 paper

NM_004646.4

p.A1188T

c.3562G>A

1 paper

NM_004646.4

p.G1187fs

c.3559_3560fs

1 paper

NM_004646.4

p.S1186delFs

c.3558delA

1 paper

NM_004646.4

p.P1185delFs

c.3555delC

1 paper

NM_004646.4

p.P1185L

c.3554C>T

1 paper

NM_004646.4

p.T1182M

c.3545C>T

2 papers

NM_004646.4

p.T1182A

c.3544A>G

1 paper

NM_004646.4

p.E1178_E1180del3

c.3532_3539del9

3 papers

NM_004646.4

p.Y1176F

c.3527A>T