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.F1145F

c.3435C>T

Surrounding Variants

6 papers

NM_004646.4

p.Q1148*

c.3442C>T

2 papers

NM_004646.4

p.Q1148delFs

c.3442delG

1 paper

NM_004646.4

p.Q1148fs

c.3442_3443fs

15 papers

NM_004646.4

p.R1140C

c.3418C>T

1 paper

NM_004646.4

p.T1152M

c.3455C>T

1 paper

NM_004646.4

p.Q1153L

c.3458A>T

1 paper

NM_004646.4

p.Q1153_E1154delFs

c.3457_3460del4

68 papers

NM_004646.4

p.R1160*

c.3478C>T

1 paper

NM_004646.4

p.R1160Q

c.3479G>A

6 papers

NM_004646.4

p.G1161Splc

c.3481+1G>T

1 paper

NM_004646.4

p.T1129_V1130Splc

c.3388-1G>A

1 paper

NM_004646.4

p.G1161Splc

c.3481+4A>T