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.V373delFs

c.1117delG

Surrounding Variants

1 paper

NM_014425.5

p.V373fs

c.1117_1118fs

1 paper

NM_014425.5

p.V370F

c.1108G>T

1 paper

NM_014425.5

p.V370_V373del4

c.1108_1118del12

1 paper

NM_014425.5

p.G368S

c.1102G>A

1 paper

NM_001318382.2

p.L40V

c.118C>G

1 paper

NM_014425.5

p.D387E

c.1161T>A

1 paper

NM_014425.5

p.D387E

c.1161T>G

1 paper

NM_014425.5

p.P393A

c.1177C>G

5 papers

NM_001318382.2

p.R70*

c.208C>T

NM_014425.5

p.R396*

c.1186C>T

4 papers

NM_014425.5

p.C398W

c.1194T>G

2 papers

NM_014425.5

p.G412Splc

c.1235-5T>C

1 paper

NM_014425.5

p.Q440Q

c.1320G>A