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.E728K

c.2182G>A

Surrounding Variants

1 paper

NM_014425.5

p.E723G

c.2168A>G

1 paper

NM_014425.5

p.E723Q

c.2167G>C

1 paper

NM_014425.5

p.A736G

c.2207C>G

1 paper

NM_014425.5

p.R749R

c.2247G>A

1 paper

NM_014425.5

p.V750G

c.2249T>G

1 paper

NM_014425.5

p.G698S

c.2092G>A

1 paper

NM_014425.5

p.K697_Q699del3

c.2089_2096del9

1 paper

NM_014425.5

p.E690Splc

c.2069-1G>T

1 paper

NM_014425.5

p.D771N

c.2311G>A

1 paper

NM_014425.5

p.S777N

c.2330G>A

2 papers

NM_014425.5

p.D781N

c.2341G>A

1 paper

NM_014425.5

p.R794H

c.2381G>A