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

7 papers

NM_004646.4

p.G1071delFs

c.3213delC

Surrounding Variants

4 papers

NM_004646.4

p.L1072fs

c.3214_3215fs

1 paper

NM_004646.4

p.L1072F

c.3214C>T

2 papers

NM_004646.4

p.L1072I

c.3214C>A

1 paper

NM_004646.4

p.G1071fs

c.3211_3212fs

1 paper

NM_004646.4

p.G1070insFs

c.3209_3210insA

16 papers

NM_004646.4

p.N1077S

c.3230A>G

4 papers

NM_004646.4

p.A1078D

c.3233C>A

1 paper

NM_004646.4

p.P1064S

c.3190C>T

1 paper

NM_004646.4

p.L1063M

c.3187C>A

1 paper

NM_004646.4

p.L1062insFs

c.3185_3186ins4

2 papers

NM_004646.4

p.G1083V

c.3248G>T

1 paper

NM_004646.4

p.S1079_G1083del5

c.3235_3248del15