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.L912V

c.2734C>G

Surrounding Variants

2 papers

NM_014425.5

p.K916insFs

c.2747_2748insA

11 papers

NM_014425.5

p.R907*

c.2719C>T

1 paper

NM_014425.5

p.E906*

c.2716G>T

1 paper

NM_014425.5

p.V922_I923delFs

c.2765_2768del4

1 paper

NM_014425.5

p.Q901*

c.2701C>T

11 papers

NM_014425.5

p.R899*

c.2695C>T

1 paper

NM_014425.5

p.R928*

c.2782C>T

2 papers

NM_014425.5

p.V896I

c.2686G>A

1 paper

NM_014425.5

p.S929Splc

c.2786+2T>C

1 paper

NM_014425.5

p.V889fs

c.2665_2666fs

1 paper

NM_014425.5

p.V889delFs

c.2666_2667delTG

1 paper

NM_014425.5

p.Q887H

c.2661G>C