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

4 papers

NM_004646.4

p.Q453R

c.1358A>G

Surrounding Variants

2 papers

NM_004646.4

p.R456Q

c.1367G>A

1 paper

NM_004646.4

p.P449S

c.1345C>T

1 paper

NM_004646.4

p.P449T

c.1345C>A

1 paper

NM_004646.4

p.G458A

c.1373G>C

1 paper

NM_004646.4

p.G448S

c.1342G>A

1 paper

NM_004646.4

p.E447insFs

c.1339dupG

20 papers

NM_004646.4

p.E447K

c.1339G>A

1 paper

NM_004646.4

p.I446delFs

c.1338delA

1 paper

NM_004646.4

p.E447fs

c.1339_1340fs

1 paper

NM_004646.4

p.I446fs

c.1336_1337fs

1 paper

NM_004646.4

p.R460W

c.1378C>T

7 papers

NM_004646.4

p.I446N

c.1337T>A