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.V642L

c.1924G>T

Surrounding Variants

1 paper

NM_004646.4

p.V642L

c.1924G>C

2 papers

NM_004646.4

p.L643P

c.1928T>C

2 papers

NM_004646.4

p.L640R

c.1919T>G

1 paper

NM_004646.4

p.V634_Y644delFs

c.1900_1930del31

3 papers

NM_004646.4

p.Y644Splc

c.1930+5G>A

1 paper

NM_004646.4

p.Y638F

c.1913A>T

2 papers

NM_004646.4

p.F637_Y638del1

c.1910_1912delAGA

1 paper

NM_004646.4

p.S636F

c.1907C>T

1 paper

NM_004646.4

p.S635S

c.1905C>T

1 paper

NM_004646.4

p.V634fs

c.1900_1901fs

2 papers

NM_004646.4

p.L630fs

c.1888_1889fs

2 papers

NM_004646.4

p.L630delFs

c.1888delG