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.T1129T

c.3387G>A

Surrounding Variants

1 paper

NM_004646.4

p.T1129P

c.3385A>C

1 paper

NM_004646.4

p.T1120fs

c.3358_3359fs

3 papers

NM_004646.4

p.W1119_T1120insFs

c.3357_3358insGG

2 papers

NM_004646.4

p.E1115*

c.3343G>T

1 paper

NM_004646.4

p.E1113K

c.3337G>A

64 papers

NM_004646.4

p.R1109*

c.3325C>T

2 papers

NM_004646.4

p.E1107E

c.3321G>A

1 paper

NM_004646.4

p.E1107K

c.3319G>A

7 papers

NM_004646.4

p.S1105S

c.3315G>A

1 paper

NM_004646.4

p.G1104Splc

c.3312-1G>A

1 paper

NM_004646.4

p.G1104Splc

c.3312-2A>T

3 papers

NM_004646.4

p.G1104Splc

c.3312-23C>T