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.S398P

c.1192T>C

Surrounding Variants

1 paper

NM_004646.4

p.S398F

c.1193C>T

1 paper

NM_004646.4

p.S400_N401insFs

c.1200_1201insA

1 paper

NM_004646.4

p.G394V

c.1181G>T

3 papers

NM_004646.4

p.G394D

c.1181G>A

1 paper

NM_004646.4

p.H393_G394del1

c.1178_1180delCAT

3 papers

NM_004646.4

p.L392P

c.1175T>C

1 paper

NM_004646.4

p.L405V

c.1213C>G

1 paper

NM_004646.4

p.A406E

c.1217C>A

14 papers

NM_004646.4

p.R407W

c.1219C>T

1 paper

NM_004646.4

p.R407Q

c.1220G>A

30 papers

NM_004646.4

p.R408Q

c.1223G>A

1 paper

NM_004646.4

p.E409*

c.1225G>T