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.T864A

c.2590A>G

Surrounding Variants

1 paper

NM_014425.5

p.S865A

c.2593T>G

1 paper

NM_014425.5

p.T866A

c.2596A>G

1 paper

NM_014425.5

p.Q887H

c.2661G>C

1 paper

NM_014425.5

p.Q887H

c.2661G>T

1 paper

NM_014425.5

p.V889delFs

c.2666_2667delTG

1 paper

NM_014425.5

p.V889fs

c.2665_2666fs

1 paper

NM_001318382.2

p.A512P

c.1534G>C

2 papers

NM_014425.5

p.V896I

c.2686G>A

11 papers

NM_014425.5

p.R899*

c.2695C>T

1 paper

NM_014425.5

p.Q901*

c.2701C>T

1 paper

NM_014425.5

p.E906*

c.2716G>T

11 papers

NM_014425.5

p.R907*

c.2719C>T