Varaico: Literature-Extracted Genetic Variants

INVS

184 papers

RefSeq Summary

This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axi...

Pfam Domains

Ank_2aa 18–111UCSCAnkyrin repeats (3 copies)

Ank_2aa 186–285UCSCAnkyrin repeats (3 copies)

Ank_2aa 280–354UCSCAnkyrin repeats (3 copies)

Ank_2aa 326–420UCSCAnkyrin repeats (3 copies)

Ank_2aa 394–486UCSCAnkyrin repeats (3 copies)

Ank_2aa 474–553UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

inversin

HGNC Previous Symbol

NPHP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014425.5

p.L254L

c.760T>C

Surrounding Variants

3 papers

NM_014425.5

p.Y251*

c.753T>A

5 papers

NM_014425.5

p.Y251*

c.753T>G

1 paper

NM_014425.5

p.N247S

c.740A>G

1 paper

NM_014425.5

p.A263insFs

c.787_788insC

1 paper

NM_014425.5

p.L264S

c.791T>C

1 paper

NM_014425.5

p.Y243H

c.727T>C

3 papers

NM_014425.5

p.S242L

c.725C>T

2 papers

NM_014425.5

p.G266Splc

c.796+2T>G

3 papers

NM_014425.5

p.G266Splc

c.796+5G>A

1 paper

NM_014425.5

p.L225fs

c.673_674fs

1 paper

NM_014425.5

p.P224delFs

c.671_672delCT

1 paper

NM_014425.5

p.N215D

c.643A>G