Varaico: Literature-Extracted Genetic Variants

GAS7

55 papers

RefSeq Summary

Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Se...

Pfam Domains

SH3_9aa 8–58UCSCVariant SH3 domain

WWaa 79–108UCSCWW domain

WW_FCH_linkeraa 109–201UCSCUnstructured linker region between on GAS7 protein

FCHaa 219–291UCSCFes/CIP4, and EFC/F-BAR homology domain

Gene Aliases

HGNC Name

growth arrest specific 7

HGNC Alias Symbols

KIAA0394; MGC1348

Papers

RefSeq ID

Protein change

DNA change

1–12 of 59 variants

2 papers

NM_201433.2

p.P141L

c.422C>T

1 paper

NM_201433.2

p.M1delFs

c.1delT

1 paper

NM_201433.2

p.M1fs

c.1_2fs

1 paper

NM_201433.2

p.M1_S2insFs

c.3_4insA

1 paper

NM_201433.2

p.A4V

c.11C>T

1 paper

NM_201433.2

p.R5C

c.13C>T

1 paper

NM_201433.2

p.G20insFs

c.60dupG

1 paper

NM_201433.2

p.L21fs

c.61_62fs

1 paper

NM_201433.2

p.A24V

c.71C>T

1 paper

NM_201433.2

p.P35P

c.105G>A

1 paper

NM_201433.2

p.E43D

c.129G>T

1 paper

NM_201433.2

p.E43D

c.129G>C