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.T291fs

c.871_872fs

Surrounding Variants

1 paper

NM_004646.4

p.G290insFs

c.869dupG

2 papers

NM_004646.4

p.G290delFs

c.869delC

5 papers

NM_004646.4

p.G290S

c.868G>A

1 paper

NM_004646.4

p.W289C

c.867G>T

1 paper

NM_004646.4

p.W289C

c.867G>C

3 papers

NM_004646.4

p.W289*

c.867G>A

4 papers

NM_004646.4

p.W289*

c.866G>A

4 papers

NM_004646.4

p.A288T

c.862G>A

8 papers

NM_004646.4

p.T294I

c.881C>T

2 papers

NM_004646.4

p.A296T

c.886G>A

1 paper

NM_004646.4

p.A296delFs

c.888delC

1 paper

NM_004646.4

p.P284P

c.852G>A