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.S627R

c.1881C>G

Surrounding Variants

1 paper

NM_004646.4

p.S627R

c.1881C>A

1 paper

NM_004646.4

p.S627R

c.1879A>C

1 paper

NM_004646.4

p.E629K

c.1885G>A

2 papers

NM_004646.4

p.E629G

c.1886A>G

1 paper

NM_004646.4

p.L630F

c.1888C>T

2 papers

NM_004646.4

p.L630delFs

c.1888delG

2 papers

NM_004646.4

p.L630fs

c.1888_1889fs

1 paper

NM_004646.4

p.R624C

c.1870C>T

26 papers

NM_004646.4

p.C623F

c.1868G>T

1 paper

NM_004646.4

p.T622ins0

c.1864_1866dupACC

1 paper

NM_004646.4

p.V621_T622delFs

c.1863_1866del4

1 paper

NM_004646.4

p.V634fs

c.1900_1901fs