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

9 papers

NM_014425.5

p.L493S

c.1478T>C

Surrounding Variants

2 papers

NM_014425.5

p.W495_S496ins16

c.1483_1487ins48

1 paper

NM_014425.5

p.N498S

c.1493A>G

1 paper

NM_014425.5

p.I505F

c.1513A>T

1 paper

NM_014425.5

p.L509fs

c.1525_1526fs

1 paper

NM_014425.5

p.A512P

c.1534G>C

1 paper

NM_014425.5

p.E519delFs

c.1555_1556delGA

1 paper

NM_014425.5

p.R524Splc

c.1572-1G>T

1 paper

NM_014425.5

p.D556delFs

c.1666delG

1 paper

NM_014425.5

p.A559T

c.1675G>A

3 papers

NM_014425.5

p.R576*

c.1726C>T

1 paper

NM_014425.5

p.Q587delFs

c.1760delA

1 paper

NM_014425.5

p.Q587fs

c.1759_1760fs