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.R586S

c.1756C>A

Surrounding Variants

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

1 paper

NM_018240.7

p.P601P

c.1803C>A

1 paper

NM_018240.7

p.R618K

c.1853G>A

1 paper

NM_018240.7

p.Y625*

c.1875C>A

1 paper

NM_018240.7

p.Y625*

c.1875C>G

1 paper

NM_018240.7

p.R640C

c.1918C>T

1 paper

NM_018240.7

p.Y653F

c.1958A>T

1 paper

NM_018240.7

p.R655Q

c.1964G>A

5 papers

NM_018240.7

p.S573L

c.1718C>T

1 paper

NM_018240.7

p.R705*

c.2113C>T