Varaico: Literature-Extracted Genetic Variants

SPTBN1

201 papers

RefSeq Summary

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembran...

Pfam Domains

CHaa 54–159UCSCCalponin homology (CH) domain

CHaa 173–279UCSCCalponin homology (CH) domain

Spectrinaa 302–412UCSCSpectrin repeat

Spectrinaa 422–526UCSCSpectrin repeat

Spectrinaa 528–636UCSCSpectrin repeat

Spectrinaa 638–742UCSCSpectrin repeat

Gene Aliases

HGNC Name

spectrin beta, non-erythrocytic 1

HGNC Alias Names

Fodrin beta chain; Beta-II spectrin

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003128.3

p.V1755M

c.5263G>A

Surrounding Variants

1 paper

NM_003128.3

p.R1754H

c.5261G>A

1 paper

NM_003128.3

p.N1759S

c.5276A>G

1 paper

NM_003128.3

p.H1760Q

c.5280C>A

1 paper

NM_003128.3

p.H1760Q

c.5280C>G

3 papers

NM_003128.3

p.G1748R

c.5242G>A

3 papers

NM_003128.3

p.G1748R

c.5242G>C

1 paper

NM_003128.3

p.T1747S

c.5240C>G

1 paper

NM_003128.3

p.T1747S

c.5239A>T

1 paper

NM_003128.3

p.D1746G

c.5237A>G

2 papers

NM_003128.3

p.R1745*

c.5233C>T

1 paper

NM_003128.3

p.E1742K

c.5224G>A

1 paper

NM_003128.3

p.R1741Q

c.5222G>A