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.E1165K

c.3493G>A

Surrounding Variants

1 paper

NM_004646.4

p.G1161Splc

c.3482-1G>A

1 paper

NM_004646.4

p.G1161Splc

c.3482-2A>T

1 paper

NM_004646.4

p.G1161Splc

c.3482-2A>G

1 paper

NM_004646.4

p.P1172A

c.3514C>G

1 paper

NM_004646.4

p.G1173E

c.3518G>A

1 paper

NM_004646.4

p.H1174Y

c.3520C>T

1 paper

NM_004646.4

p.L1175fs

c.3523_3524fs

1 paper

NM_004646.4

p.L1175fs

c.3523_3524fs

2 papers

NM_004646.4

p.L1175delFs

c.3523_3524delAA

3 papers

NM_004646.4

p.Y1176F

c.3527A>T

1 paper

NM_004646.4

p.Y1176C

c.3527A>G

1 paper

NM_004646.4

p.E1178_E1180del3

c.3532_3539del9