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.E444D

c.1332A>T

Surrounding Variants

1 paper

NM_014425.5

p.E444D

c.1332A>C

1 paper

NM_014425.5

p.I443K

c.1328T>A

1 paper

NM_014425.5

p.Q440Q

c.1320G>A

1 paper

NM_014425.5

p.P459S

c.1375C>T

1 paper

NM_014425.5

p.P459L

c.1376C>T

2 papers

NM_014425.5

p.A464T

c.1390G>A

2 papers

NM_014425.5

p.A473delFs

c.1417delG

2 papers

NM_014425.5

p.A473fs

c.1417_1418fs

2 papers

NM_014425.5

p.G412Splc

c.1235-5T>C

6 papers

NM_014425.5

p.P482R

c.1445C>G

3 papers

NM_014425.5

p.Q485delFs

c.1453delC

3 papers

NM_014425.5

p.Q485fs

c.1453_1454fs