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.K480_D481Splc

c.1440+1G>A

Surrounding Variants

1 paper

NM_004646.4

p.K480R

c.1439A>G

2 papers

NM_004646.4

p.K480T

c.1439A>C

1 paper

NM_004646.4

p.P474delFs

c.1422delG

1 paper

NM_004646.4

p.S475fs

c.1423_1424fs

2 papers

NM_004646.4

p.G470D

c.1409G>A

3 papers

NM_004646.4

p.A467_I468insT

c.1399_1403ins3

13 papers

NM_004646.4

p.C465Y

c.1394G>A

1 paper

NM_004646.4

p.V464M

c.1390G>A

1 paper

NM_004646.4

p.L463L

c.1387C>T

1 paper

NM_004646.4

p.R462K

c.1385G>A

3 papers

NM_004646.4

p.R462W

c.1384A>T

1 paper

NM_004646.4

p.V461V

c.1383G>A