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

1–12 of 210 variants

11 papers

NM_014425.5

p.R899*

c.2695C>T

11 papers

NM_014425.5

p.R907*

c.2719C>T

9 papers

NM_014425.5

p.L493S

c.1478T>C

9 papers

NM_014425.5

p.R603*

c.1807C>T

6 papers

NM_014425.5

p.P482R

c.1445C>G

5 papers

NM_014425.5

p.Y251*

c.753T>G

5 papers

NM_014425.5

p.R396*

c.1186C>T

5 papers

NM_014425.5

p.G801E

c.2402G>A

4 papers

NM_014425.5

p.A360Splc

c.1078+1G>A

4 papers

NM_014425.5

p.C398W

c.1194T>G

4 papers

NM_014425.5

p.A650P

c.1948G>C

3 papers

NM_014425.5

p.V165_K166insFs

c.495_496ins16