Varaico: Literature-Extracted Genetic Variants

SPTB

386 papers

RefSeq Summary

This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in ...

Pfam Domains

CHaa 54–159UCSCCalponin homology (CH) domain

CHaa 173–279UCSCCalponin homology (CH) domain

Spectrinaa 302–412UCSCSpectrin repeat

Spectrinaa 422–526UCSCSpectrin repeat

Spectrinaa 528–635UCSCSpectrin repeat

Spectrinaa 637–741UCSCSpectrin repeat

Gene Aliases

HGNC Name

spectrin beta, erythrocytic

HGNC Alias Name

spherocytosis, clinical type I

Papers

RefSeq ID

Protein change

DNA change

1–12 of 945 variants

17 papers

NM_001355436.2

p.R1625*

c.4873C>T

15 papers

NM_001355436.2

p.R1756*

c.5266C>T

14 papers

NM_001355436.2

p.R638*

c.1912C>T

13 papers

NM_001355436.2

p.R1579*

c.4735C>T

12 papers

NM_001355436.2

p.R1423*

c.4267C>T

11 papers

NM_001355436.2

p.R955*

c.2863C>T

10 papers

NM_001355436.2

p.S2019P

c.6055T>C

9 papers

NM_001355436.2

p.W652*

c.1956G>A

9 papers

NM_001355436.2

p.R1403Q

c.4208G>A

9 papers

NM_001355436.2

p.G1658Splc

c.4973+5G>A

9 papers

NM_001355436.2

p.A1884V

c.5651C>T

9 papers

NM_001355436.2

p.L2025R

c.6074T>G