Varaico: Literature-Extracted Genetic Variants

SPTBN2

334 papers

RefSeq Summary

Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta no...

Pfam Domains

CHaa 57–162UCSCCalponin homology (CH) domain

CHaa 176–282UCSCCalponin homology (CH) domain

Spectrinaa 305–415UCSCSpectrin repeat

Spectrinaa 425–528UCSCSpectrin repeat

Spectrinaa 531–639UCSCSpectrin repeat

Spectrinaa 641–745UCSCSpectrin repeat

Gene Aliases

HGNC Name

spectrin beta, non-erythrocytic 2

HGNC Previous Symbol

SCA5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_006946.4

p.M436T

c.1307T>C

Surrounding Variants

7 papers

NM_006946.4

p.R437W

c.1309C>T

7 papers

NM_006946.4

p.R437G

c.1309C>G

12 papers

NM_006946.4

p.R437Q

c.1310G>A

1 paper

NM_006946.4

p.R432H

c.1295G>A

3 papers

NM_006946.4

p.R432S

c.1294C>A

1 paper

NM_006946.4

p.R429H

c.1286G>A

2 papers

NM_006946.4

p.E443_N444insFs

c.1329_1330insA

1 paper

NM_006946.4

p.A428V

c.1283C>T

1 paper

NM_006946.4

p.L426del1

c.1276_1277delCAG

1 paper

NM_006946.4

p.Q445delFs

c.1334_1335delCT

1 paper

NM_006946.4

p.E421K

c.1261G>A

3 papers

NM_006946.4

p.R414C

c.1240C>T