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.R554W

c.1660C>T

Surrounding Variants

5 papers

NM_018240.7

p.S573L

c.1718C>T

1 paper

NM_018240.7

p.R534T

c.1601G>C

1 paper

NM_018240.7

p.R534W

c.1600A>T

1 paper

NM_018240.7

p.V531L

c.1591G>T

1 paper

NM_018240.7

p.A515T

c.1543G>A

1 paper

NM_018240.7

p.A505V

c.1514C>T

1 paper

NM_018240.7

p.A505T

c.1513G>A

1 paper

NM_018240.7

p.A501A

c.1503C>A

1 paper

NM_018240.7

p.R586S

c.1756C>A

1 paper

NM_018240.7

p.C587delFs

c.1760delG

1 paper

NM_018240.7

p.Y596D

c.1786T>G

1 paper

NM_018240.7

p.Y596F

c.1787A>T