Varaico: Literature-Extracted Genetic Variants

SPAST

702 papers

RefSeq Summary

This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellula...

Pfam Domains

AAAaa 378–508UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 532–577UCSCAAA+ lid domain

Vps4_Caa 563–612UCSCVps4 C terminal oligomerisation domain

Gene Aliases

HGNC Name

spastin

HGNC Previous Symbol

SPG4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_199436.2

p.K430N

c.1290A>T

NM_014946.4

p.K462N

c.1386A>T

Surrounding Variants

3 papers

NM_199436.2

p.K430N

c.1290A>C

NM_014946.4

p.K462N

c.1386A>C

2 papers

NM_014946.4

p.T463_F465del3

c.1387_1394del9

4 papers

NM_014946.4

p.K462R

c.1385A>G

2 papers

NM_014946.4

p.T463A

c.1387A>G

2 papers

NM_014946.4

p.K462Q

c.1384A>C

3 papers

NM_014946.4

p.K462E

c.1384A>G

1 paper

NM_014946.4

p.E464fs

c.1390_1391fs

4 papers

NM_014946.4

p.E464*

c.1390G>T

3 papers

NM_014946.4

p.E464delFs

c.1392delA

1 paper

NM_014946.4

p.E464fs

c.1390_1391fs

4 papers

NM_014946.4

p.L461P

c.1382T>C

2 papers

NM_014946.4

p.E464A

c.1391A>C