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

4 papers

NM_014425.5

p.A650P

c.1948G>C

Surrounding Variants

3 papers

NM_014425.5

p.N648S

c.1943A>G

1 paper

NM_014425.5

p.R656_R659del4

c.1966_1976del12

1 paper

NM_014425.5

p.R638Q

c.1913G>A

1 paper

NM_014425.5

p.G668V

c.2003G>T

1 paper

NM_014425.5

p.Q671_K672del2

c.2011_2015del6

3 papers

NM_014425.5

p.Q671*

c.2011C>T

1 paper

NM_014425.5

p.E673_Q674del2

c.2017_2021del6

1 paper

NM_014425.5

p.P627L

c.1880C>T

1 paper

NM_014425.5

p.P627insFs

c.1879dupC

1 paper

NM_014425.5

p.S614C

c.1840A>T

1 paper

NM_014425.5

p.R613Q

c.1838G>A

2 papers

NM_014425.5

p.R687fs

c.2059_2060fs