Varaico: Literature-Extracted Genetic Variants

DISP1

165 papers

RefSeq Summary

The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrou...

Pfam Domains

Sterol-sensingaa 519–672UCSCSterol-sensing domain of SREBP cleavage-activation

MMPLaa 938–1142UCSCMMPL family

Gene Aliases

HGNC Name

dispatched RND transporter family member 1

HGNC Alias Symbols

DISPA; MGC13130; DKFZP434I0428; MGC16796

Papers

RefSeq ID

Protein change

DNA change

1–12 of 193 variants

7 papers

NM_001377229.1

p.M1096T

c.3287T>C

4 papers

NM_001377229.1

p.W475*

c.1424G>A

4 papers

NM_001377229.1

p.W475*

c.1425G>A

4 papers

NM_001377229.1

p.Y734*

c.2202C>A

4 papers

NM_001377229.1

p.Y734*

c.2202C>G

4 papers

NM_001377229.1

p.A1471G

c.4412C>G

3 papers

NM_001377229.1

p.P25P

c.75G>A

3 papers

NM_001377229.1

p.E103D

c.309G>C

3 papers

NM_001377229.1

p.E103D

c.309G>T

3 papers

NM_001377229.1

p.E553K

c.1657G>A

3 papers

NM_001377229.1

p.A1045V

c.3134C>T

2 papers

NM_001377229.1

p.A19V

c.56C>T