Varaico: Literature-Extracted Genetic Variants

SPTAN1

341 papers

RefSeq Summary

Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are compose...

Pfam Domains

Spectrinaa 44–147UCSCSpectrin repeat

Spectrinaa 149–252UCSCSpectrin repeat

Spectrinaa 255–359UCSCSpectrin repeat

Spectrinaa 361–465UCSCSpectrin repeat

Spectrinaa 467–571UCSCSpectrin repeat

Spectrinaa 573–676UCSCSpectrin repeat

Gene Aliases

HGNC Name

spectrin alpha, non-erythrocytic 1

HGNC Alias Name

alpha-fodrin

Papers

RefSeq ID

Protein change

DNA change

1–12 of 482 variants

16 papers

NM_001130438.3

p.E2207del1

c.6619_6620delGAG

14 papers

NM_001130438.3

p.D2303_G2306ins1

c.6908_6916dup9

12 papers

NM_001130438.3

p.R19W

c.55C>T

8 papers

NM_001130438.3

p.R566P

c.1697G>C

8 papers

NM_001130438.3

p.K2083del1

c.6247_6248delAAG

7 papers

NM_001130438.3

p.A306V

c.917C>T

7 papers

NM_001130438.3

p.A1428G

c.4283C>G

7 papers

NM_001130438.3

p.Q2202del1

c.6604_6605delCAG

7 papers

NM_001130438.3

p.R2308_Q2310ins1

c.6923_6928dup6

6 papers

NM_001130438.3

p.E91K

c.271G>A

6 papers

NM_001130438.3

p.R1098C

c.3292C>T

6 papers

NM_001130438.3

p.R1610W

c.4828C>T