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.D390_G391Splc

c.1170+5G>T

Surrounding Variants

5 papers

NM_004646.4

p.D390_G391Splc

c.1170+5G>A

1 paper

NM_004646.4

p.D390_G391Splc

c.1170+7C>T

1 paper

NM_004646.4

p.D390_G391Splc

c.1170+2T>C

1 paper

NM_004646.4

p.D390_G391Splc

c.1170+1G>A

1 paper

NM_004646.4

p.D390G

c.1169A>G

1 paper

NM_004646.4

p.T387T

c.1161A>G

1 paper

NM_004646.4

p.T387fs

c.1159_1160fs

1 paper

NM_004646.4

p.L382L

c.1144C>T

4 papers

NM_004646.4

p.Q380*

c.1138C>T

13 papers

NM_004646.4

p.R379W

c.1135C>T

2 papers

NM_004646.4

p.W378*

c.1134G>A

2 papers

NM_004646.4

p.W378*

c.1133G>A