Varaico: Literature-Extracted Genetic Variants

KIRREL1

61 papers

RefSeq Summary

NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2...

Pfam Domains

C2-set_2aa 18–108UCSCCD80-like C2-set immunoglobulin domain

I-setaa 21–118UCSCImmunoglobulin I-set domain

C2-set_2aa 118–208UCSCCD80-like C2-set immunoglobulin domain

Ig_3aa 307–374UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

kirre like nephrin family adhesion molecule 1

HGNC Alias Symbol

NEPH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018240.7

p.L217L

c.651G>A

Surrounding Variants

1 paper

NM_018240.7

p.E205K

c.613G>A

1 paper

NM_018240.7

p.V197A

c.590T>C

1 paper

NM_018240.7

p.N188I

c.563A>T

1 paper

NM_018240.7

p.S183C

c.547A>T

1 paper

NM_018240.7

p.P222S

c.664C>T

1 paper

NM_018240.7

p.T224A

c.670A>G

1 paper

NM_018240.7

p.V234_E236del0

c.700_708del9

1 paper

NM_018240.7

p.G237R

c.709G>C

1 paper

NM_018240.7

p.A246S

c.736G>T

1 paper

NM_018240.7

p.G261S

c.781G>A

1 paper

NM_018240.7

p.P284_V285delFs

c.852_855del4

1 paper

NM_018240.7

p.F306Splc

c.916+7A>G