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

1–12 of 919 variants

68 papers

NM_004646.4

p.R1160*

c.3478C>T

64 papers

NM_004646.4

p.R1109*

c.3325C>T

46 papers

NM_004646.4

p.E117K

c.349G>A

31 papers

NM_004646.4

p.R460Q

c.1379G>A

30 papers

NM_004646.4

p.R408Q

c.1223G>A

29 papers

NM_004646.4

p.R367C

c.1099C>T

26 papers

NM_004646.4

p.C623F

c.1868G>T

25 papers

NM_004646.4

p.V1084insFs

c.3250dupG

24 papers

NM_004646.4

p.D310N

c.928G>A

23 papers

NM_004646.4

p.R743C

c.2227C>T

22 papers

NM_004646.4

p.S366R

c.1096A>C

22 papers

NM_004646.4

p.S366R

c.1098T>G