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.V165fs

c.493_494fs

Surrounding Variants

3 papers

NM_014425.5

p.V165_K166insFs

c.495_496ins16

1 paper

NM_014425.5

p.H164Y

c.490C>T

1 paper

NM_014425.5

p.H171fs

c.511_512fs

1 paper

NM_014425.5

p.W155*

c.465G>A

1 paper

NM_014425.5

p.W155*

c.464G>A

1 paper

NM_014425.5

p.L153delFs

c.458delT

1 paper

NM_014425.5

p.L153fs

c.457_458fs

1 paper

NM_014425.5

p.E181*

c.541G>T

1 paper

NM_014425.5

p.P185Q

c.554C>A

1 paper

NM_014425.5

p.W188R

c.562T>A

1 paper

NM_014425.5

p.W188R

c.562T>C

2 papers

NM_014425.5

p.W188*

c.563G>A