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

6 papers

NM_004646.4

p.P340H

c.1019C>A

Surrounding Variants

1 paper

NM_004646.4

p.P340S

c.1018C>T

1 paper

NM_004646.4

p.P340delFs

c.1020delA

2 papers

NM_004646.4

p.A342G

c.1025C>G

4 papers

NM_004646.4

p.I344delFs

c.1032delA

1 paper

NM_004646.4

p.G347R

c.1039G>C

1 paper

NM_004646.4

p.G347R

c.1039G>A

6 papers

NM_004646.4

p.G347E

c.1040G>A

18 papers

NM_004646.4

p.S350P

c.1048T>C

2 papers

NM_004646.4

p.S350F

c.1049C>T

1 paper

NM_004646.4

p.E353delins

c.1057_1058delinsAA

1 paper

NM_004646.4

p.N354S

c.1061A>G

1 paper

NM_004646.4

p.K355R

c.1064A>G