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

2 papers

NM_004646.4

p.L132P

c.395T>C

Surrounding Variants

2 papers

NM_004646.4

p.L132R

c.395T>G

1 paper

NM_004646.4

p.L132M

c.394C>A

1 paper

NM_004646.4

p.I131I

c.393C>T

1 paper

NM_004646.4

p.V133Splc

c.397+1G>A

1 paper

NM_004646.4

p.V133Splc

c.397+2T>A

1 paper

NM_004646.4

p.V133Splc

c.397+3A>G

1 paper

NM_004646.4

p.S130F

c.389C>T

1 paper

NM_004646.4

p.L129H

c.386T>A

2 papers

NM_004646.4

p.L129F

c.385C>T

1 paper

NM_004646.4

p.V127L

c.379G>T

1 paper

NM_004646.4

p.V127L

c.379G>C

1 paper

NM_004646.4

p.R126S

c.378A>T