Varaico: Literature-Extracted Genetic Variants

SPTA1

788 papers

RefSeq Summary

This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmemb...

Pfam Domains

Spectrinaa 53–156UCSCSpectrin repeat

Spectrinaa 158–262UCSCSpectrin repeat

Spectrinaa 264–368UCSCSpectrin repeat

Spectrinaa 370–474UCSCSpectrin repeat

Spectrinaa 476–580UCSCSpectrin repeat

Spectrinaa 582–685UCSCSpectrin repeat

Gene Aliases

HGNC Name

spectrin alpha, erythrocytic 1

HGNC Alias Symbol

EL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003126.4

p.Q1159_E1160Splc

c.3478-158C>G

Surrounding Variants

1 paper

NM_003126.4

p.S1163insFs

c.3487_3488insG

13 papers

NM_003126.4

p.S1163A

c.3487T>G

1 paper

NM_003126.4

p.S1163fs

c.3487_3488fs

2 papers

NM_003126.4

p.R1176W

c.3526C>T

1 paper

NM_003126.4

p.R1176Q

c.3527G>A

1 paper

NM_003126.4

p.G1180D

c.3539G>A

1 paper

NM_003126.4

p.F1188L

c.3562T>C

1 paper

NM_003126.4

p.F1188I

c.3562T>A

1 paper

NM_003126.4

p.F1188L

c.3564T>G

1 paper

NM_003126.4

p.F1188L

c.3564T>A

1 paper

NM_003126.4

p.H1189Y

c.3565C>T

1 paper

NM_003126.4

p.R1190Splc

c.3569+2T>C