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.Y738*

c.2214T>A

Surrounding Variants

1 paper

NM_004646.4

p.Y738*

c.2214T>G

2 papers

NM_004646.4

p.A739T

c.2215G>A

4 papers

NM_004646.4

p.A739V

c.2216C>T

4 papers

NM_004646.4

p.T741T

c.2223C>T

7 papers

NM_004646.4

p.I742T

c.2225T>C

23 papers

NM_004646.4

p.R743C

c.2227C>T

1 paper

NM_004646.4

p.R743H

c.2228G>A

1 paper

NM_004646.4

p.R743delFs

c.2227delG

1 paper

NM_004646.4

p.A744S

c.2230G>T

1 paper

NM_004646.4

p.P748S

c.2242C>T

1 paper

NM_004646.4

p.P748A

c.2242C>G

1 paper

NM_004646.4

p.E750G

c.2249A>G