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.S804S

c.2412T>C

Surrounding Variants

1 paper

NM_014425.5

p.P805_A806del2

c.2413_2417del6

5 papers

NM_014425.5

p.G801E

c.2402G>A

1 paper

NM_014425.5

p.R799K

c.2396G>A

1 paper

NM_014425.5

p.R794R

c.2382C>A

1 paper

NM_014425.5

p.R815fs

c.2443_2444fs

1 paper

NM_014425.5

p.R794H

c.2381G>A

1 paper

NM_014425.5

p.G816V

c.2447G>T

2 papers

NM_014425.5

p.D781N

c.2341G>A

1 paper

NM_014425.5

p.S777N

c.2330G>A

1 paper

NM_001318382.2

p.A512P

c.1534G>C

1 paper

NM_014425.5

p.D771N

c.2311G>A

1 paper

NM_014425.5

p.V750G

c.2249T>G