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.A360T

c.1078G>A

Surrounding Variants

4 papers

NM_014425.5

p.A360Splc

c.1078+1G>A

1 paper

NM_014425.5

p.S346A

c.1036T>G

1 paper

NM_014425.5

p.V337delFs

c.1011delC

1 paper

NM_014425.5

p.W328R

c.982T>A

1 paper

NM_014425.5

p.W328R

c.982T>C

1 paper

NM_014425.5

p.L320P

c.959T>C

1 paper

NM_014425.5

p.D317E

c.951T>A

1 paper

NM_014425.5

p.D317E

c.951T>G

1 paper

NM_014425.5

p.D317V

c.950A>T

1 paper

NM_014425.5

p.K306E

c.916A>G

2 papers

NM_014425.5

p.V305L

c.913G>C

1 paper

NM_014425.5

p.A302_E303Splc

c.907-1212C>T