Varaico: Literature-Extracted Genetic Variants

ITGB4

427 papers

RefSeq Summary

Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form comp...

Pfam Domains

PSI_integrinaa 28–73UCSCIntegrin plexin domain

Integrin_betaaa 125–370UCSCIntegrin beta chain VWA domain

I-EGF_1aa 457–485UCSCIntegrin beta epidermal growth factor like domain 1

EGF_Teneurinaa 549–576UCSCTeneurin-like EGF domain

Integrin_B_tailaa 624–710UCSCIntegrin beta tail domain

Calx-betaaa 985–1106UCSCCalx-beta domain

Gene Aliases

HGNC Name

integrin subunit beta 4

HGNC Alias Symbol

CD104

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

13 papers

NM_000213.5

p.R1225H

c.3674G>A

Surrounding Variants

1 paper

NM_000213.5

p.R1225insFs

c.3674_3675insT

1 paper

NM_000213.5

p.G1224A

c.3671G>C

1 paper

NM_000213.5

p.A1227D

c.3680C>A

1 paper

NM_000213.5

p.E1222K

c.3664G>A

1 paper

NM_000213.5

p.V1230V

c.3690C>T

4 papers

NM_000213.5

p.T1236_E1242delFs

c.3707_3725del19

3 papers

NM_000213.5

p.T1236fs

c.3706_3707fs

1 paper

NM_000213.5

p.T1236_E1245delFs

c.3707_3735del29

1 paper

NM_000213.5

p.Q1237*

c.3709C>T

1 paper

NM_000213.5

p.S1239_W1240del2

c.3715_3719del6

1 paper

NM_000213.5

p.W1240_E1249del10

c.3718_3746del30

4 papers

NM_000213.5

p.W1240*

c.3719G>A