Varaico: Literature-Extracted Genetic Variants

ITGAM

620 papers

RefSeq Summary

This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with ...

Pfam Domains

VWAaa 150–327UCSCvon Willebrand factor type A domain

FG-GAPaa 457–494UCSCFG-GAP repeat

FG-GAPaa 520–555UCSCFG-GAP repeat

Integrin_A_Ig_1aa 614–769UCSCIntegrin alpha Ig-like domain 1

Integrin_A_Ig_2aa 770–921UCSCIntegrin alpha Ig-like domain 2

ITGAX-like_Ig_3aa 922–1101UCSCIntegrin alpha-X-like, Ig-like domain 3

Gene Aliases

HGNC Name

integrin subunit alpha M

HGNC Previous Symbols

CR3A; CD11B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000632.4

p.N240I

c.719A>T

Surrounding Variants

1 paper

NM_000632.4

p.N243Y

c.727A>T

1 paper

NM_000632.4

p.N243I

c.728A>T

1 paper

NM_000632.4

p.G244R

c.730G>A

1 paper

NM_000632.4

p.G244R

c.730G>C

1 paper

NM_000632.4

p.G244_A245insFs

c.732_733insG

6 papers

NM_000632.4

p.R246Q

c.737G>A

2 papers

NM_000632.4

p.K247E

c.739A>G

1 paper

NM_000632.4

p.N248H

c.742A>C

1 paper

NM_000632.4

p.L253R

c.758T>G

1 paper

NM_000632.4

p.V254V

c.762T>C

1 paper

NM_000632.4

p.I256del1

c.766_768delATC

1 paper

NM_000632.4

p.E260_K261insFs

c.780_781insA