Varaico: Literature-Extracted Genetic Variants

NISCH

148 papers

RefSeq Summary

This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the inner layer of the plasma membrane. The orthologous mouse protein has been shown to in...

Pfam Domains

PXaa 36–118UCSCPX domain

LRR_4aa 332–375UCSCLeucine Rich repeats (2 copies)

PH_PLEKHM2aa 1152–1291UCSCPLEKHM2 PH domain-like

PH_NISCH_Caa 1347–1500UCSCNischarin, C-terminal PH domain

Gene Aliases

HGNC Name

nischarin

HGNC Alias Symbols

KIAA0975; I-1; IRAS

Papers

RefSeq ID

Protein change

DNA change

1–12 of 143 variants

5 papers

NM_007184.4

p.A1056V

c.3167C>T

4 papers

NM_007184.4

p.R930H

c.2789G>A

3 papers

NM_007184.4

p.H116D

c.346C>G

3 papers

NM_007184.4

p.V299I

c.895G>A

3 papers

NM_007184.4

p.A495insFs

c.1484_1485insG

3 papers

NM_007184.4

p.Q1463H

c.4389G>C

3 papers

NM_007184.4

p.Q1463H

c.4389G>T

2 papers

NM_007184.4

p.M1I

c.3G>A

2 papers

NM_007184.4

p.M1I

c.3G>C

2 papers

NM_007184.4

p.M1I

c.3G>T

2 papers

NM_007184.4

p.A281V

c.842C>T

2 papers

NM_007184.4

p.D303N

c.907G>A