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.V370G

c.1109T>G

Surrounding Variants

1 paper

NM_004646.4

p.P368delFs

c.1103delG

9 papers

NM_004646.4

p.P368L

c.1103C>T

13 papers

NM_004646.4

p.P368S

c.1102C>T

1 paper

NM_004646.4

p.R367L

c.1100G>T

4 papers

NM_004646.4

p.R367H

c.1100G>A

29 papers

NM_004646.4

p.R367C

c.1099C>T

22 papers

NM_004646.4

p.S366R

c.1098T>G

22 papers

NM_004646.4

p.S366R

c.1098T>A

7 papers

NM_004646.4

p.S366N

c.1097G>A

22 papers

NM_004646.4

p.S366R

c.1096A>C

10 papers

NM_004646.4

p.L376V

c.1126C>G

2 papers

NM_004646.4

p.W378*

c.1133G>A