Varaico: Literature-Extracted Genetic Variants

SPTBN4

151 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 61–166UCSCCalponin homology (CH) domain

CHaa 180–286UCSCCalponin homology (CH) domain

Spectrinaa 309–419UCSCSpectrin repeat

Gene Aliases

HGNC Name

spectrin beta, non-erythrocytic 4

HGNC Alias Symbols

SPTBN3; KIAA1642

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020971.3

p.S2272A

c.6814T>G

Surrounding Variants

1 paper

NM_020971.3

p.E2271K

c.6811G>A

1 paper

NM_020971.3

p.H2275H

c.6825C>T

1 paper

NM_020971.3

p.E2276*

c.6826G>T

1 paper

NM_020971.3

p.S2254A

c.6760T>G

1 paper

NM_020971.3

p.R2247W

c.6739C>T

1 paper

NM_020971.3

p.S2305A

c.6913T>G

1 paper

NM_020971.3

p.D2238N

c.6712G>A

1 paper

NM_020971.3

p.A2219fs

c.6655_6656fs

1 paper

NM_020971.3

p.P2211S

c.6631C>T

1 paper

NM_020971.3

p.P2208L

c.6623C>T

1 paper

NM_020971.3

p.R2175W

c.6523C>T

1 paper

NM_020971.3

p.E2158K

c.6472G>A